[Acute bilateral vision loss in Fanconi anemia].
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Acute Disease↗
Biomedical subjects
C Y Mardin
Publications and source records attributed to C Y Mardin.
[Time-multiplexing stereophotography: 2D and 3D qualitative and semiquantitative evaluation of glaucomatous optic disc atrophy].
PURPOSE: Real color documentation of the optic nerve head (ONH) is one of the most important methods in identifying early progression of glaucomatous optic nerve damage. This study qualitatively and semiquantitatively compared the evaluation of ONH photographs, using a 3D time-multiplexing system and conventional 2D photography, visualized on a computer monitor. PATIENTS AND METHODS: Twelve 15 degrees sequential stereophotographs from the Erlangen Glaucoma Registry were scanned by a SprintScan 35 Plus Film scanner (Polaroid, Waltham, MA, USA) and converted by computer software (3D-PIX, NuVision, McNaughton Inc., Beaverton, OR, USA) in jps format (3D). The same ONH images were shown in 2D and 3D to 22 subjects: 12 residents and ten ophthalmologists and evaluated using a standardized questionnaire. RESULTS: We observed a significantly better evaluation with stereoscopic pictures for both qualitative parameters (cup depth, visibility of the retinal nerve fibers, and the thinnest location of the neuroretinal rim) and quantitative parameters (c/d ratio and size of the disc, depending on the training level: in 3D better evaluation by the residents, in 2D by the ophthalmologists). With 2D pictures, we found better evaluation of the B zone and the stage of atrophy. Other than the method used for the entire evaluation, there was no significant difference between the groups. For the parameters weighed for clinical importance, the score of correct answers was significantly better with stereoscopic pictures. CONCLUSION: This study showed a significantly better evaluation of glaucomatous ONH atrophy with 3D images than with 2D pictures, independently of the evaluators' clinical training level. The computer-based evaluation of ONH atrophy using a time-multiplexing system (shutter glasses) may improve the diagnosis of glaucoma patients.
Atrophy↗
[Healthy optic discs with large cups--a diagnostic challenge in glaucoma].
BACKGROUND: Healthy optic discs with large cups are often characterised to be glaucomatous in automated, morphometric analysis. The aim of this study was to investigate the variables of laser scanning tomography (LST) and nerve fibre polarimetry of these disks in comparison to small and normal sized disks. METHODS: 117 eyes (age 49.3 +/- 14.6 years) with healthy, non-atrophic disks (md = 0.8 dB, Tensio 14.3 +/- 2.5 mmHg) of the Erlangen Glaucoma Registry were clinically examined. Morphometry was performed both by planimetry and the HRT I (Heidelberg Engineering, Dossenheim, version 2.01) and with the GDx FCC (Laser Diagnostics, San Diego). 63 eyes initially referred for a large cup were compared to 54 normal eyes. All measurements were analysed globally and in four sectors according to Jonas. RESULTS: The disc area of discs with large cups was significantly larger than that for the normals (3.1 +/- 5.3 vs. 2.2 +/- 4.2 mm (2)). Both the multivariate analysis of the HRT and the GDx revealed a significant correlation with total disk area (R = 0.34, p = 0.0001), with a high percentage of false positive glaucoma eyes among large disks. Cup area and volume showed, in contrast to rim volume and rim area, a significant correlation (R = 0.76, p = 0.0001) with the disc size. Thickness of retinal nerve fibre layer measurements both in HRT and GDx showed higher values for larger disc size with steeper cup measurements. The vertical diameter of the cup increased in comparison to the horizontal to a higher extent with increasing disc size. CONCLUSIONS: By the pronounced enlargement of cup measurements, decreasing nerve fibre thickness values and decreasing ratio of temporal-to-inferior width of the neuroretinal rim, large disks may easily be detected as false glaucomatous by morphometric analysis systems. A better presentation of large discs in a normative database and integration of sectors and disc area in a multivariate analysis may improve the diagnostic abilities of automated morphometric disk analysis.
Diagnosis, Differential↗
[Parapapillary autofluorescence as indicator for glaucoma].
BACKGROUND: A pronounced fundus autofluorescence (lipofuscin) occurs in eyes with AMD. Parapapillary lipofuscin accumulation in the retinal pigment epithelial cells was observed in eyes with advanced glaucoma histologically. The aim of this study was to evaluate the parapapillary autofluorescence (PAF) in vivo in healthy eyes (controls), and in eyes with primary open angle glaucoma (POAG), pseudoexfoliation glaucoma (PSXG) or normal tension glaucoma (NTG). PATIENTS AND METHODS: Controlled cross-sectional analysis was performed on 281 consecutive eyes (98 controls, 95 POAG, 32 PSXG, 56 NTG). Eyes with fundus pathologies were excluded. The confocal scanning laser ophthalmoscope HRA II (Heidelberg Retina Angiograph II) was used after lipofuscin-excitation with an argon blue laser (488 nm) to detect PAF in the spectrum above 500 nm. PAF area and PAF distance to the optic nerve head were analyzed using the HRA standard software. Two experienced ophthalmologists classified independently the stage of glaucomatous optic nerve head atrophy (GONHA) using 15 degrees fundus photographs. RESULTS: Vital optic nerve heads had smaller PAF areas (stage 0: 0.07 +/- 0.09 mm (2)) in contrast to advanced stages of GONHA (stages 1 to 4: 0.27 +/- 0.46 mm (2); p < 0.001; logistic regression Cox and Snell: r = 0.7; p = 0.015). The PAF distance to the optic nerve head was lower in controls (0.12 +/- 0.08 mm) than in eyes with POAG, PSXG, or NTG (0.25 +/- 0.21 mm, Bonferroni: p < 0,004). The PAF area correlated significantly with the stage of GONHA (stage 1: 0.23 +/- 0.23 mm (2), stage 2: 0.24 +/- 0.19 mm (2), stages 3 and 4: 0.34 +/- 0.73 mm (2), p < 0.01). No significant difference of PAF area was found between the glaucoma types. However, the distance between PAF and optic nerve head was higher in POAG (0.28 +/- 0.26 mm) than in NTG (0.24 +/- 0.07 mm) or in PSXG (0.18 +/- 0.07 mm, Bonferroni: p < 0.03). CONCLUSIONS: A pronounced fundus autofluorescence was detected as a sign of increased lipofuscin accumulation in the parapapillary atrophic zone of eyes with POAG, PSXG, and NTG in contrast to controls. The PAF analysis may provide an indicator for glaucomas in the future.
Biomarkers↗
Automated segmentation of the optic nerve head for diagnosis of glaucoma.
Glaucoma is the second most common cause of blindness worldwide. Low awareness and high costs connected to glaucoma are reasons to improve methods of screening and therapy. A well-established method for diagnosis of glaucoma is the examination of the optic nerve head using scanning-laser-tomography. This system acquires and analyzes the surface topography of the optic nerve head. The analysis that leads to a diagnosis of the disease depends on prior manual outlining of the optic nerve head by an experienced ophthalmologist. Our contribution presents a method for optic nerve head segmentation and its validation. The method is based on morphological operations, Hough transform, and an anchored active contour model. The results were validated by comparing the performance of different classifiers on data from a case-control study with contours of the optic nerve head manually outlined by an experienced ophthalmologist. We achieved the following results with respect to glaucoma diagnosis: linear discriminant analysis with 27.7% estimated error rate for automated segmentation (aut) and 26.8% estimated error rate for manual segmentation (man), classification trees with 25.2% (aut) and 22.0% (man) and bootstrap aggregation with 22.2% (aut) and 13.4% (man). It could thus be shown that our approach is suitable for automated diagnosis and screening of glaucoma.
Algorithms↗
Laser scanning tomography of the optic nerve vs CSF opening pressure in idiopathic intracranial hypertension.
The authors investigated 17 patients with idiopathic intracranial hypertension (IIH), correlating laser scanning tomography of the optic nerve with CSF opening pressure. The decrease in papilla volume and papilla height showed a linear correlation with the opening pressure of the CSF (r = 0.59, p < 0.001; r = 0.63, p < 0.001). If the CSF opening pressure is higher than 20 cm water, an increase of 5 cm water CSF pressure corresponds to a papilla volume increase of 0.95 mm3 as well as a papilla height increase of 0.34 mm.
Adult↗
[Digital planimetry for long-term follow-up of glaucomatous optic disk injuries in patients with normal pressure glaucoma].
BACKGROUND: Aim of the study was to evaluate the validity of quantitative planimetry of the optic disc with a new digital method and to assess the correlation of the measurements with morphological changes in eyes with low tension glaucoma. MATERIAL AND METHODS: The study included 40 eyes from 40 patients (age 61+/-12 years) with low tension glaucoma with a mean follow-up of 4.9+/-2.1 (range 3-9) years. All patients underwent annually complete ophthalmological examination including 15 degrees color optic disc photographs and automated white-white visual fields. RESULTS: Out of 40 eyes morphological examination showed signs of progression in 18 eyes and in 22 eyes no morphological changes of the optic disc were detected The digital planimetrically measured optic disc area did not vary between the first and the last photos. The mean differences between measured values for optic disc area between two examinations were 0.027+/-0.071 mm(2) and the reliability coefficient (Cronbachs alpha) was 0.99. Neuroretinal rim area decreased statistically highly significantly in eyes with morphological progression, and in eyes without morphological changes decreased only slightly. CONCLUSIONS: The variation of measurements of the optic disc area can be minimized by consideration and adjustment of the individual image magnification of the photos using digital planimetry. This method allows the quantitative assessment even of slight changes of the neuroretinal rim area and is a useful examination for follow-up of glaucoma patients.
Disease Progression↗
[Bilateral visual field defects with optic disc drusen and secondary open angle glaucoma with PEX--clinical correlation with the HRA].
BACKGROUND: Arcuate visual field defects are a typical sign of glaucomatous damage. Elevated intraocular pressure in combination with pseudoexfoliation syndrome (PSX) manifests the diagnosis glaucoma. Beyond this state, in microdiscs with optic disc drusen, the exact classification of the visual field defects is crucial. CASE REPORT: A 57-year-old male with pseudoexfoliation glaucoma was referred because of progressive glaucomatous visual field defects. The visual acuity was right 20/40 and left 20/25. Maximum intraocular pressure was 36 mm Hg. A simple optic nerve atrophy was diagnosed superonasally. The optic disc size was OD 2.24 mm(2) and OS 1.89 mm(2) (HRT I). An Ultrasound B-mode scan demonstrated the diagnosis of optic disc drusen. Over a follow-up of 1 year, a growth tendency was observed, especially in the superonasal quadrant. The mulberry-shaped surface of the drusen was visualized with infrared reflection images (HRA II, 830 nm). Confocal scanning laser ophthalmoscopy (HRA II, excitation 488 nm, 500 nm notch filter) showed an increased intrapapapillary autofluorescence (> 50 % papillary area: OD 1.67 mm(2), OS 1.26 mm(2)). This technique could detect drusen in areas that looked normal in classical retinoscopy. CONCLUSION: The differential diagnosis of arcuate scotomas includes simple optic nerve atrophy and glaucomatous optic nerve atrophy. Optic disc drusen in glaucoma eyes can obscure the main cause of progressive visual field loss. Superficial optic disc drusen can be measured planimetrically over the years. An adequate reduction of intraocular pressure should be realized in these eyes.
Diagnosis, Differential↗
[Impact of prostaglandin-F(2alpha)-analogues and carbonic anhydrase inhibitors on central corneal thickness -- a cross-sectional study on 403 eyes].
BACKGROUND: Histological changes of, in particular, collagen and extracellular matrix after administration of topical prostaglandin F(2alpha)(PGF (2alpha)) analogues have been reported. In view of this observation, we investigated the influence of PGF(2alpha) analogues on the central corneal thickness. PATIENTS AND METHODS: In a non-randomized, controlled, cross-sectional study, 403 eyes from 208 consecutive patients were examined: 149 eyes (normals/controls) and 79 with ocular hypertension (OHT), 119 eyes with primary open angle glaucoma (POAG) and 56 eyes with normal tension glaucoma (NTG). One experienced ophthalmologist measured the central corneal thickness (CCT) using ultrasound pachymetry (Tomey AL-2000, sequence of 5 measurements with an SD < 3 microm). The central corneal power was measured with the Zeiss keratometer. Depending on the topical treatment, the patients were classified into 4 groups: A) PGF(2alpha) analogues (n = 78), B) carbonic anhydrase inhibitors (n = 26), C) combination of PGF (2)(alpha) analogues and carbonic anhydrase inhibitors (n = 41), D) none of these drugs (n = 258). T tests and multiple linear regression analyses were used for statistical analysis. RESULTS: CCT was decreased significantly (p < 0.01 each) in eyes treated with PGF(2alpha) analogues (group A: 529 +/- 34 microM), in comparison with the untreated and non-glaucomatous eyes (part of group D: 542 +/- 35 microM, n = 148), untreated glaucomatous/OHT eyes (part of group D: 563 +/- 37 microM, n = 110), eyes treated with carbonic anhydrase inhibitors (group B: 561 +/- 32 microm) and eyes with a topical application of both PGF (2)(alpha) analogues and carbonic anhydrase inhibitors (group C: 555 +/- 48 microM. No correlation was found between CCT and diagnosis (OHT, POAG, NTG, control), gender, central corneal power, and intraocular pressure in a multivariate analysis. CONCLUSIONS: The present findings suggest that the topical application of prostaglandin F(2alpha) analogues onto the cornea reduces the central corneal thickness significantly. These changes might be attributed to effects of PGF(2alpha) analogues on the extracellular matrix of the corneal stroma via upregulation of matrix metalloproteinases. In clinical practice, corneal thinning under local PGF (2)(alpha) analogue treatment could result in underestimation of intraocular pressure levels as measured by applanation tonometry.
Acetazolamide↗
[Bilateral loss of vision after tonsillitis. Postinfectious neuroretinitis stellata after streptococcal tonsillitis].
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Child↗
[Vigabatrin-associated bilateral simple optic nerve atrophy with visual field constriction. A case report and a survey of the literature].
CASE REPORT: A 70-year-old male with optic disc pallor and visual field constriction up to 35 degrees bilaterally was previously treated with vigabatrin. The cumulative dosage was 3.7 kg. The b-wave was reduced in photopic and scotopic electroretinography and the patient had delayed visual evoked potentials. The retinal nerve fiber thickness was pathologically reduced in the Heidelberg retinal tomography (HRT) and the retinal nerve fiber layer analyzer (GDx). CONCLUSION: Vigabatrin is an antiepileptic drug and may increase the intraretinal GABA level due to an inhibition of the enzyme GABA-transaminase and may induce an ascending simple optic nerve atrophy. Vigabatrin-associated visual field defects may be irreversible. A visual field control is recommended before starting the treatment with vigabatrin and at regular 6-month intervals thereafter. In cases of visual field constriction, the therapy should be stopped. If the cumulative dosage is more than 3 kg of vigabatrin, the visual field controls should be performed more frequently because of the dosage-toxicity relationship.
Aged↗
Retinal nerve fiber layer measurements using laser scanning polarimetry in different stages of glaucomatous optic nerve damage.
PURPOSE: To evaluate the diagnostic value of polarimetric measurements of the retinal nerve fiber layer (RNFL) thickness in different stages of glaucomatous optic nerve damage. METHODS: The study included 92 eyes of 46 controls (age 41.0+/-13.7 years) and a heterogeneous group of 232 eyes of 135 patients with different stages of glaucomatous optic nerve damage (age 54.0+/-10.2 years; 68 patients with primary open-angle glaucoma, 56 with normal-pressure glaucoma and 11 patients with secondary glaucoma due to primary dispersion syndrome or pseudoexfoliation syndrome). All control subjects and patients underwent complete ophthalmological examinations including scanning laser polarimetry of the RNFL using the GDx (Laser Diagnostic Technologies, San Diego, Calif.) and 15 degrees color stereo optic disc photographs. Only subjects and patients with disc area less than 3.4 mm(2) were included in the study. The total glaucoma group were divided into four subgroups according to the morphological criteria of the neuroretinal rim. RESULTS: The stage of morphological glaucomatous optic nerve damage was classified as follows: stage 0: n=92, stage 1: n=103, stage 2: n=65, stage 3: n=40, and stage 4: n=19. Differences in mean polarimetric retardation between controls and eyes with glaucoma were significant for all parameters except the variable symmetry. The most significant differences between controls and eyes with glaucomatous optic nerve damage were found with the "number" variable assigned by the neural network analysis ( P<0.001). With increasing stage of glaucomatous optic nerve damage, separation of the variable "the number" increased significantly. At a predetermined specificity of 90% the sensitivity of the groups with different stages of morphological glaucomatous optic nerve damage increased from 32% for stage 1 to 90% for stage 4. CONCLUSION: Polarimetric measurement of the RNFL thickness is significantly associated with morphological glaucomatous optic nerve damage. The fast performance, easy handling, and low cost of RNFL polarimetry mean that it can be included in the routine examination of glaucoma patients. Further study and refinement of this technique are indicated to improve its usefulness in both clinical diagnosis and in population-based case identification.
Adult↗
[Acute loss of vision with painful, unilateral exophthalmos].
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Adult↗
"Masked" pseudoexfoliation syndrome in unoperated eyes with circular posterior synechiae: clinical-electron microscopic correlation.
OBJECTIVE: To investigate the prevalence of "masked" pseudoexfoliation (PEX) syndrome in eyes with circular posterior synechiae receiving antiglaucomatous therapy with miotics. DESIGN: Cross-sectional prospective study. METHODS: Twenty-eight eyes of 27 consecutive patients with circular posterior synechiae and a history of miotic drug use without previous intraocular surgery, inflammation, or trauma, and without conventional signs of PEX material in the anterior chamber were included in the study. All eyes were investigated by slitlamp biomicroscopy and gonioscopy of the anterior chamber before extracapsular cataract surgery for the presence of typical PEX-associated iris pigment epithelial changes, such as peripupillary atrophy and trabecular meshwork melanin granule deposition. The anterior chamber depth, lens thickness, and axial lengths of the eyes were measured by A-scan immersion sonography. The excised anterior lens capsules obtained during extracapsular cataract surgery were investigated for the presence of precapsular fibrillar PEX deposits by electron microscopy. MAIN OUTCOME MEASURE: The prevalence of masked PEX syndrome in eyes with circular posterior synechiae receiving antiglaucomatous therapy with miotics. RESULTS: Transmission electron microscopy of unselected nonserial sections revealed a precapsular layer consisting of typical PEX fibers or microfibrils, which indicated early stages of PEX syndrome in 18 (64%) of 28 eyes with circular posterior synechiae. Melanin granules were frequently found adhering to the fibrillar layer. Eyes with precapsular fibrillar deposits showed significantly greater trabecular meshwork pigmentation than eyes without such deposits. Differences in age, lens thickness, axial length of the eye, anterior chamber depth, and degree of peripupillary atrophy were, however, not statistically significant between the groups with and without electron microscopic evidence of PEX deposits. CONCLUSIONS: Circular posterior synechiae were more frequently associated with manifest or early stages of PEX syndrome. However, the formation of broad posterior synechiae in miosis prevented a definite clinical diagnosis based on the classic changes of the anterior lens capsule. In eyes with spontaneous or miotic-induced circular posterior synechiae without other obvious cause, the masked variant of PEX syndrome should always be considered.
Aged↗
Effect of neodymium:YAG laser iridotomy on number of aqueous melanin granules in primary pigment dispersion syndrome.
PURPOSE: Increased numbers of aqueous melanin granules have been reproducibly demonstrated in eyes with pigment dispersion syndrome using the cell count mode of the laser flare-cell meter. It was the aim of this study to measure the exact number of aqueous melanin granules in eyes with pigment dispersion syndrome and pigmentary glaucoma before and after Nd:YAG laser iridotomy. METHODS: Nine eyes of seven patients with a clinical diagnosis of primary pigment dispersion syndrome and secondary open-angle glaucoma (mean age 41.1 +/- 10.8 years) were included in this study. Aqueous cells were quantified using the cell count mode of the laser flare-cell meter (Kowa FC-1000) before and 30 min after medical pupillary dilation. Measurements were performed before and 15 +/- 7 weeks after Nd:YAG laser iridotomy. The main outcome measure was the number of aqueous melanin granules before and after Nd:YAG laser iridotomy. RESULTS: The number (mean and quartiles) of aqueous melanin granules/0.075 microl aqueous humor (normal/dilated pupil) before antiglaucoma treatment was 4.5 (4.0, 7.25)/ 9.0 (5.0, 13.0) and was significantly reduced after iridotomy [1.5 (0.75, 3.25)/4.0 (1.6, 6.25), P=0.016]. CONCLUSION: Nd:YAG laser iridotomy results in significant (65%) decrease of aqueous melanin granules in eyes with primary pigment dispersion syndrome. This finding appears to confirm the concept of reverse pupillary block in primary pigment dispersion syndrome and may indicate that laser iridotomy is a useful treatment option in this condition.
Adult↗
[Conventional versus digital planimetry of optic disc photograph: a clinical comparative study].
BACKGROUND: The optic disc size is an important parameter for the diagnosis of glaucomatous and non-glaucomatous optic nerve damage. The aim of this study was to compare quantitative measurements of the optic disc with the established conventional planimetry and a new digital method using Soft imaging system analySIS(tm) for Ophthalmology and to determine the reproducibility of this new method. PATIENTS AND METHODS: Fifty color stereo optic disc photographs of 50 patients (mean age 41.7 +/- 13.4 y) were included in the retrospective, comparative study. Conventional and digital planimetry was taken from one skilled examiner in a masked fashion. According to patient's number measurement values obtained with both methods were matched. Digital planimetric measurements of 10 optic disc photographs were repeated on day 7 and day 14. Statistical analysis was done using linear regression analysis, reliability coefficient and U-test. RESULTS: The planimetric values did not vary significantly between the two methods for optic disc area (3.19 +/- 0.65 mm(2) vs. 3.03 +/- 0.64 mm(2), p=0.96), for cup area (1.36 +/- 0.62 mm(2) vs. 1.21 +/- 0.63 mm(2), p=0.96) or for neuroretinal rim area (1.83 +/- 0.39 vs. 1.82 +/- 0.41 mm(2), p=0.98). There was also no significant difference of horizontal and vertical diameter of optic disc and cup as well as the diameter of the superior temporal and inferior temporal retinal artery and vein at the optic disc border between both methods (p < 0.5). Differences between measured values for optic disc, optic cup area and neuroretinal rim area obtained with both methods were 0.16 +/- 0.10 mm(2) (range - 0.05 to 0.24), 0.15 +/- 0.10 mm(2) (range - 0.12 to 0.26) and 0.014 +/- 0.11 mm(2) (range - 0.26 to 0.26). A high correlation of all planimetric values was observed between both methods (r=0.9, p < 0.0001). Using digital planimetry differences between day 1, day 7 and day 14 were 0.05 +/- 0.03 (range 0.02 to 0.10 mm(2)) for optic disc, 0.05 +/- 0.04 (range 0.0 to 0.13 mm(2)) for optic cup area and 0.05 +/- 0.05 (range 0.01 to 0.14 mm(2)) for the neuroretinal rim area. The reliability coefficient of digital planimetry was 0.9 for optic disc parameters. CONCLUSIONS: The comparable results between both methods and a high reproducibility suggest that the digital planimetry could be used either for clinical routine or scientific evaluation of the optic nerve.
Adult↗
The diagnostic value of optic nerve imaging in early glaucoma.
In the last decade, new imaging techniques have been added to conventional fundus photography and have been evaluated for use in early glaucoma. They all measure the loss of neuroretinal rim or retinal nerve fiber layer as a correlate to glaucomatous ganglion cell and axon loss. The value of optic disc photography, planimetry, laser scanning tomography, laser scanning polarimetry, and optical coherence tomography for the diagnosis of glaucomatous eyes in a preperimetric or early perimetric stage is analyzed on the basis of sensitivity, specificity, and receiver operating characteristics (ROC) curves. It becomes clear that all these techniques allow a more or less semi-automated evaluation of the optic disc and retinal nerve fiber layer but still have their limitations in the diagnosis of a very early, preperimetric stage of the glaucoma disease.
Glaucoma↗
Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.
PURPOSE: To describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and benign sequence variants in the cytochrome P 450 1B1 (CYP1B1) gene. METHODS: All patients were examined by slit-lamp biomicroscopy, gonioscopy, measurement of the cornea and optic disc, ultrasound biometry, and automated static threshold perimetry when possible. Direct sequence analysis was performed on DNA extracted from peripheral blood from the patients and their parents. RESULTS: For patient 1, a newborn boy with buphthalmos and an opaque cornea, a novel homozygous C/T transition in codon 355 (CGA>TGA) led to a predicted nonsense codon Arg355X truncating the protein by 188 amino acids. For patient 2, a 24-year-old man, a compound heterozygous mutation 1410-1422del/1546-1555dup was found. For patient 3, a 34-year-old man, two novel heterozygous missense mutations resulting in an Ala443Gly and a Glu229Lys amino acid exchange and five benign sequence variants were found. CONCLUSION: Our results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.
Adult↗