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A case of occult macular dystrophy accompanying normal-tension glaucoma.

PURPOSE: To present a case of occult macular dystrophy accompanying normal-tension glaucoma. DESIGN: Observational case report. METHODS: Visual function and ophthalmoscopic and electroretinographic findings in a 56-year-old man suffering from gradually progressive photophobia and visual dysfunction were followed up over 4 years. RESULTS: Best-corrected visual acuity was below 20/200, and intraocular pressures remained in the low teens in both eyes. A wedge-shaped visual field defect in the right eye, corresponding to the enlarged disk cupping, and a relative central scotoma in the left were detected. Ophthalmoscopy and fluorescein angiography detected no apparent abnormality at the macular region in either eye. Severely attenuated multifocal electroretinographic responses were recorded from only the central areas, with normal full-field responses. CONCLUSION: Clinicians must look for additional pathologic conditions in patients with normal-tension glaucoma who have unexplained central visual dysfunction.

Electroretinography↗

Optical coherence tomography findings in nicotinic acid maculopathy.

PURPOSE: To report optical coherence tomography findings in nicotinic acid maculopathy. DESIGN: Observational case report. METHOD: The patient was examined with ophthalmoscopy, fluorescein angiography, and optical coherence tomography. RESULTS: A 71-year-old man presented with bilateral decreased visual acuity with metamorphopsia. Optical coherence tomography demonstrated cystoid spaces in the outer plexiform layer and inner nuclear layer. Fluorescein angiography did not show leakage. Two weeks after stopping the nicotinic acid, the cystoid spaces resolved. CONCLUSIONS: Niacin maculopathy causes cystoid spaces in the inner nuclear and outer plexiform layers that resolve with discontinuation of the drug.

Aged↗

Autologous retinal pigment epithelium and choroid translocation in patients with exudative age-related macular degeneration: short-term follow-up.

PURPOSE: To evaluate the feasibilty of translocating autologous retinal pigment epithelium cells and choroid after the removal of a subfoveal choroidal neovascular membrane in patients with exudative age-related macular degeneration. DESIGN: Interventional case series. METHODS: This was a prospective evaluation of six patients with a follow-up of 7 to 13 months. All patients had large (> 1 disk diameter) subfoveal choroidal membranes, five with subretinal hemorrhage. Preoperative visual acuity ranged from 20/400 to 20/200. After the extraction of the neovascular complex, an autologous peripheral full-thickness patch of retinal pigment epithelium, Bruch membrane, choriocapillary, and choroid was cut out from the midperiphery and repositioned under the macula. Functional tests included Early Treatment Diabetic Retinopathy Study vision testing, fixation testing on a optical coherence tomography monitor, fluorescein and indocyanine green angiography, and scanning laser ophthalmoscopy autofluorescence. RESULTS: The retinal pigment epithelium patch appeared flat and had a brown furry aspect in four patients. Fixation was on the patch in these four patients. Postoperative vision ranged from 20/200 to 20/64, with a 2-line increase in three patients. Revascularization was visible on fluorescein and indocyanide angiography in three patients examined in this manner. Normal retinal pigment epithelium autofluorescence was present over the patch in four patients. CONCLUSIONS: The translocation of a full-thickness patch with autologous peripheral retinal pigment epithelium to the macula after choroidal neovascular membrane extraction was feasible and may result in a surviving and functioning graft for more than 1 year. Longer follow-up to evaluate its long-term benefit is necessary, as well as refinement of the surgery.

Aged↗

A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).

PURPOSE: To describe the clinical features of two affected members of an Iranian family with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) and to report their novel mutation in the PHOX2A/ARIX gene. DESIGN: Experimental study. METHODS SETTING: Institutional practice. patient population:Six members of an Iranian family with CFEOM underwent complete ocular examinations including assessment of ocular motility, visual acuity, slit-lamp biomicroscopy, tonometry, and ophthalmoscopy. EXPERIMENTAL PROCEDURE: Mutation analysis of the PHOX2A gene was performed using polymerase chain reaction amplification of the coding exons and direct sequencing of polymerase chain reaction products. MAIN OUTCOME MEASURE: Presence or absence of mutation in PHOX2A gene in two siblings with exotropia and recessive CFEOM. Exotropia and ptosis were corrected surgically in one of the two siblings. RESULTS: The two affected siblings had bilateral ptosis and exotropia and severe limitation of all extraocular movements. One patient underwent strabismus surgery and ptosis repair. PHOX2A mutation analysis revealed a novel nonsense mutation in exon 2 (439C-->T). Both parents and the unaffected siblings were heterozygous,and the two affected siblings were homozygous for this mutation. CONCLUSIONS: The 439C-->T mutation in this family changes a glutamine to a stop codon (Q90X) at the beginning of the PHOX2A homeodomain region. This is the fourth CFEOM2 mutation in PHOX2A and the first nonsense mutation to be identified. It confirms PHOX2A as the autosomal recessive CFEOM2 disease gene and provides evidence that the phenotypic differences between PHOX2A mutations in man and mouse do not result from hypomorphic PHOX2A alleles in humans.

Blepharoptosis↗

Measurement of cyclotorsion.

PURPOSE: To measure accurately the amount of cyclotorsion. METHODS: A horizontal light beam of the slit lamp is projected on the retina, crossing the fovea. The slit light will normally cross between the middle and lower thirds of the disk. Cyclotorsion of the eye will cause the horizontal slit-light beam to be projected onto a different part of the disk. The slit light is then tilted by the scale mark on the slit lamp in such a way that the slit light is crossing the fovea and the physiologic area on the disk. RESULTS: The amount of slit-lamp tilt needed is obtained from the scale mark on the slit lamp. This test correlated well with other tests used for the appreciation of cyclotorsion: the Maddox double rod test and indirect ophthalmoscopy. CONCLUSION: A simple method for measuring ocular cyclotorsion is described.

Humans↗

White dot fovea.

PURPOSE: To describe a newly identified clinical entity tentatively named white dot fovea. METHODS: We examined by scanning laser ophthalmoscopy 58 eyes of 30 patients (mean age, 64 years) who had white dots in the fovea (anatomically defined as the foveola) simulating macular hole. In addition, the retinal surfaces of 30 autopsy eyes from donors aged 70 years or older were observed by scanning electron microscopy. RESULTS: White dot fovea was bilateral in 28 of 30 patients (93%). It was characterized by the presence of numerous white dots on the foveal surface distributed either diffusely or along the foveal margin, forming a gray ring. There was no subjective symptom or visual disturbance. The condition was best seen by a scanning laser ophthalmoscope using argon blue laser as the light source. The white dots numbered from 100 to 300 per eye. Each dot was approximately 5 microns in diameter. Scanning electron microscopy showed foveal granules simulating the white dots in five of 30 autopsy eyes (17%). The granules had multiple protrusions with cilia-like structures resembling glial cells. This glia-like structure seemed to be a counterpart of clinically observed white dot fovea. CONCLUSION: White dot fovea is a new, frequent, and apparently innocuous clinical entity. It merits due attention in the differential diagnosis of macular holes.

Aged↗

Agreement between clinicians and a confocal scanning laser ophthalmoscope in estimating cup/disk ratios.

PURPOSE: We assessed agreement between cup/disk ratio measurements obtained by glaucoma expert evaluation of stereoscopic photographs of the optic disk and those obtained with a confocal scanning laser ophthalmoscope. METHODS: Three glaucoma experts estimated vertical and horizontal cup/disk ratios from stereoscopic photographs of 15 normal subjects and 15 patients with glaucoma. These estimates were compared to vertical, horizontal, and area cup/disk ratios measured with a confocal scanning laser ophthalmoscope. Intraobserver and interobserver agreements were also estimated. RESULTS: Agreement between clinicians and the confocal scanning laser ophthalmoscope varied by clinician. Agreement was moderate to substantial for vertical cup/disk ratio and fair to moderate for horizontal cup/disk ratio; kappas ranged from 0.57 to 0.72 and from 0.21 to 0.55, respectively. The mean confocal scanning laser ophthalmoscope area cup/disk ratio measurements were smaller than each clinician's mean vertical and horizontal cup/disk ratio estimates; differences ranged from 0.10 to 0.24 and from 0.06 to 0.16, respectively. Differences were smaller between clinician estimates and instrument measurements of horizontal and vertical cup/disk ratios of patients with glaucoma than normal subjects. CONCLUSIONS: These results demonstrate good agreement between confocal scanning laser ophthalmoscope measurements and clinician estimates of the vertical cup/disk ratios from stereoscopic photographs, particularly of patients with glaucoma. However, as differences between clinician and instrument estimates of cup/disk ratios were found, new quantitative criteria must be established for characterizing a disk as glaucomatous using confocal scanning laser ophthalmoscopy.

Adult↗

Choroidal nonperfusion in giant cell arteritis.

A 68-year-old man had visual loss secondary to isolated choroidal nonperfusion as a clinical manifestation of giant cell arteritis. Ophthalmoscopy disclosed scattered yellow-white lesions at the level of the retinal pigment epithelium in the posterior pole of the right eye. Intravenous fluorescein angiography demonstrated marked delay in choroidal filling of the macula in the right eye. There was no ophthalmoscopic or angiographic evidence of anterior ischemic optic neuropathy or central retinal artery occlusion. After approximately 72 hours of intravenous corticosteroid therapy, the patient's visual acuity improved and repeat intravenous fluorescein angiography showed normal choroidal circulation. Isolated choroidal ischemia is a potential cause of reversible visual loss in patients with giant cell arteritis.

Aged↗

Capillary blood flow velocity measurements in cystoid macular edema with the scanning laser ophthalmoscope.

Using a scanning laser ophthalmoscope, we calculated the velocity of retinal blood flow in a juxta-foveolar capillary during the course of cystoid macular edema after partial central retinal vein occlusion in a 53-year-old woman. The mean velocity of the fluorescent dots in the macular capillary of the right eye with cystoid macular edema was 1.59 +/- 0.08 mm/sec at the initial examination. Despite the systemic administration of indomethacin (75 mg/day for three weeks), best-corrected visual acuity decreased from 20/30 to 20/70, and the velocity became 0.82 +/- 0.13 mm/sec. Prednisolone (30 mg/day orally for one week) improved the cystoid macular edema, and the velocity was 0.96 +/- 0.06 mm/sec 12 days after initiation of the drug. The velocity gradually improved; one year later it was 1.65 +/- 0.17 mm/sec and visual acuity was 20/22. Velocity in the left eye, which did not have cystoid macular edema, was 2.16 +/- 0.16 mm/sec. Thus, scanning laser ophthalmoscopy proved useful for measuring the velocity of retinal blood flow.

Blood Flow Velocity↗

Visual loss complicating OKT3 monoclonal antibody therapy.

OKT3 is a murine monoclonal antibody used for immunosuppression of solid-organ transplant rejection. We studied severe visual loss after administration of OKT3 in two patients who received renal transplants (one 25-year-old woman with interstitial nephritis and severe hypertension and one 27-year-old woman with diabetic nephropathy). Both patients lost visual acuity to the level of light perception after a second or third dose of OKT3. Ophthalmoscopy disclosed arteriolar constriction, but there was no evidence of optic atrophy. The electroretinogram was extinguished in one patient, indicating an effect on the outer retina or retinal pigment epithelium. Ophthalmologists should be aware that OKT3 may cause profound visual loss in patients who receive organ transplants.

Adult↗

Ophthalmic and genetic screening in pedigrees with familial adenomatous polyposis.

PURPOSE: To study the possible association between ophthalmic findings, genetic status, and clinical course of the disease in Austrian pedigrees with familial adenomatous polyposis (FAP). METHODS: Thirty-nine members of 16 consecutive FAP families with 20 affected patients and 19 relatives with a 50% a priori risk to develop the disease were examined ophthalmologically. The intestinal status of all persons was established by colonoscopy. Direct or indirect molecular genetic analysis, or both, was possible in eight of the 16 FAP families. RESULTS: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) was discovered in 15 (75%) of the 20 persons affected by familial adenomatous polyposis. Five (25%) of the patients with an established FAP were CHRPE-negative. Four of the 19 at-risk individuals were CHRPE-positive. According to DNA analysis, five of the 19 at-risk relatives had a high risk to develop a manifest disease. The ophthalmoscopic tests were in complete agreement with the molecular risk estimation. Furthermore, the combined results of endoscopy and ophthalmoscopy suggested a relationship between a positive CHRPE status and the severity of FAP. CONCLUSIONS: Ophthalmic examinations facilitate predictive diagnosis in FAP patients and first-degree relatives, permitting a noninvasive, highly reliable risk assessment. When present, CHRPE lesions are a reliable clinical marker for FAP in CHRPE-positive families. In CHRPE negative families, negative ophthalmic examinations are of no predictive value. The CHRPE status can add information about the location of the genetic mutation. The combination of an ophthalmic examination with DNA analysis and endoscopy improves the risk assessment of FAP carriers.

Adenomatous Polyposis Coli↗

Examination of patients with cystoid macular edema using a scanning laser ophthalmoscope with infrared light.

PURPOSE: To report a noninvasive method for evaluating eyes with cystoid macular edema. METHODS: We obtained infrared images of cystoid macular edema in eight eyes of eight patients using a scanning laser ophthalmoscope with the dark-field mode of a 780-nm diode laser. Differences between infrared images and fluorescein angiograms in the imaging of cystoid changes were examined. RESULTS: With the scanning laser ophthalmoscope, we observed cystoid macular changes as images that resembled three-dimensional pictures in the dark-field mode with infrared light. Cystoid changes observed by this method generally agreed with changes observed by fluorescein angiography. CONCLUSIONS: Scanning laser ophthalmoscopy with infrared light in a dark-field mode is noninvasive, and the results in eyes with cystoid macular edema generally agreed with results obtained by fluorescein angiography. This method is useful for examining eyes with cystoid macular edema.

Adult↗

Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12.

PURPOSE: To describe the clinical features of a large pedigree with autosomal dominant congenital nystagmus linked to chromosome 6p12. METHODS: In a prospective evaluation of 54 living family members in a single pedigree, 21 persons were affected with autosomal dominant congenital nystagmus, and clinical examinations were performed on 14. Selected persons underwent further studies, including electroretinography, scanning laser ophthalmoscopy, nerve fiber layer studies, visual evoked potential studies, and eye movement recordings. RESULTS: Among seven affected persons whose parents were able to report whether the nystagmus was present congenitally, onset at birth was noted in two persons and between 3 and 6 months in five persons. Best-corrected binocular Snellen visual acuity ranged from 20/30 to 20/100, with a mode of 20/50. Strabismus was present in 14 examined patients (36%). Eye movement recordings, performed on five persons, included asymmetric pendular (three), asymmetric pendular combined with dual waveform jerk (one), and unidirectional jerk nystagmus (one). CONCLUSIONS: Autosomal dominant congenital nystagmus represents a disorder with variable expressivity. While onset is typically during infancy, it can be noted at birth. Intrafamilial variation in visual acuity, ocular alignment, and nystagmus waveform suggests a role for modifying influences on expression of disease.

Adult↗

Retinal peripheral changes after laser in situ keratomileusis in patients with high myopia.

BACKGROUND: Retinal detachment has been reported after laser in situ keratomileusis (LASIK) in myopic eyes. This complication may be related to the risk from myopia before surgery or may be induced by LASIK surgery itself. We performed a study to evaluate retinal peripheral changes after LASIK in patients with high myopia and to correlate symptoms on presentation and vitreoretinal anatomic changes. METHODS: The study was carried out at a university-affiliated hospital in São Paulo between November 1997 and February 1999. Patients scheduled to undergo LASIK were included if their spherical equivalent was greater than 6.00 dioptres. The exclusion criteria were previous retinal treatment and myopic macular degenerations. We performed binocular indirect ophthalmoscopy with scleral indentation and fundus biomicroscopy with Goldmann lens before LASIK and 1, 3 and 6 months after surgery. RESULTS: We examined 198 eyes preoperatively. Of the 198, 50 did not undergo LASIK surgery owing to refractive criteria, and 79 were lost to follow-up. We thus studied 69 eyes. The mean spherical equivalent preoperatively was -8.00 D (standard deviation 1.95 D). Twenty-four eyes had normal retinal periphery preoperatively; all 24 remained without alterations after LASIK. Forty-five eyes had peripheral alterations: 17 (24.6%) had cystic degeneration, 14 (20.3%) had lattice degeneration, 11 (15.9%) had white-without-pressure, 5 (7.2%) had cystic tufts, 3 (4.3%) had pavingstone degeneration, 2 (2.9%) had pigmentary alteration, 1 (1.4%) had holes with free operculum, and 1 (1.4%) had punctiform holes. The only alteration after surgery was almost punctiform holes around the previous cystic tuft 1 month after surgery in one patient. Retinal detachment did not develop in any of the eyes. INTERPRETATION: In this group of patients it appears that LASIK did not lead to progressive peripheral retinal lesions in asymptomatic patients during the period studied.

Adult↗

Adult-onset foveomacular vitelliform dystrophy with retinal folds.

BACKGROUND: Adult-onset foveomacular vitelliform dystrophy is characterized by a solitary, oval, slightly elevated, yellowish subretinal lesion of the fovea. We examined a patient with adult-onset foveomacular vitelliform dystrophy with stellate retinal folds by optical coherence tomography and scanning laser ophthalomoscopy. CASE: A 58-year-old Japanese woman with a complaint of decreased vision in her right eye was diagnosed as having adult-onset foveomacular vitelliform dystrophy. OBSERVATIONS: Ophthalmoscopic examination revealed a yellowish lesion of one-third disc diameter in size at the fovea in the right eye. Fluorescein angiography demonstrated an irregular block of choroidal fluorescence corresponding to the yellowish lesion, which was surrounded by stellate retinal folds. Optical coherence tomography images showed a steep elevation of the retinal pigment epithelium (RPE) as a focally protruded reflective band over an optically clear space. Scanning laser ophthalmoscopy provided morphologic enhancement in the specifically affected layers of the macula. Using an argon green laser, band-shaped bright reflexes were seen in the right fovea. The helium-neon laser revealed a bright patch corresponding to the yellowish lesion over the fovea, which was surrounded by stellate retinal folds. The diode laser revealed a bright patch corresponding to the yellowish lesion. CONCLUSION: The stellate retinal folds of this patient were considered to be caused by the steep elevation of the RPE with an extracellular accumulation of the vitelliform deposits.

Electroretinography↗

Clinical features of bilateral acute idiopathic maculopathy.

PURPOSE: To describe the clinical course of bilateral acute idiopathic maculopathy (BAIM), and to analyze its pathophysiology. CASE: A 33-year-old Japanese woman presented with a sudden, severe, bilateral visual disturbance following a flu-like illness. She was examined by fluorescein angiography (FA), indocyanine green angiography (IA), scanning laser ophthalmoscopy (SLO), optical coherence tomography (OCT), and multifocal electroretinography (mfERG). OBSERVATIONS: A diagnosis of BAIM was made in this patient based on typical ophthalmoscopic features, which included a pathognomonic yellowish-white foveal lesion. FA demonstrated a breakdown of the outer blood-retinal barrier, with the size and location corresponding to the white lesion, and IA disclosed a choroidal circulatory disturbance. SLO demonstrated that the deep retinal and choroidal layers were disorganized, and OCT showed retinal edema. Electrophysiological dysfunction was detected by mfERGs. After steroid therapy, the patient's visual acuity recovered to normal. The pooling of fluorescein dye and the OCT-determined retinal edema were resolved. However, the physiological dysfunction detected by mfERGs remained. CONCLUSIONS: We conclude that the major abnormality in BAIM is an alteration of the retinal pigment epithelium causing severe edema.

Acute Disease↗

Abnormal vitreous structure in optic nerve pit.

A 37-year-old man presented with an optic nerve pit and serous macular detachment of the left eye. Scanning laser ophthalmoscopy revealed a cyst-like structure terminating at the pit in the premacular vitreous. During ocular movement, this structure moved vigorously and seemed to exert traction on the pit. We believe that it is part of an anomalous Cloquet's canal, and that traction on the pit may be a significant factor in the development of serous macular detachment in this patient.

Adult↗

Candida endophthalmitis in the premature infant.

An attempt was made to determine the incidence and natural history of Candida endophthalmitis in the premature infant with systemic candidiasis. Each of eight premature infants were examined by indirect ophthalmoscopy within one week of their diagnosis. At this stage, four infants had multiple fluffy white lesions on both the retina and the vitreous, together with a diffuse vitreous haze. Three of the infants had interlesional and lesional-retinal vitreous strands. Three infants treated with amphotericin B and 5-fluorocytosine showed gradual disappearance of the lesions. The fourth infant died early in the course of antifungal therapy, when the eye lesions were progressing. Candida sepsis was particularly prevalent in the very low-birth-weight infant with a prolonged hospital course and treated with multiple broad-spectrum antibiotics. The course of the eye lesions indicates a good prognosis for Candida endophthalmitis, although further follow-up is necessary.

Amphotericin B↗