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At least 163 records · Page 9Linked to original sources

[Congenital glaucoma].

ōme statistical results have been clarified through research on the infantile glaucoma over the past fifteen years. The incidence of primary glaucoma and secondary, glaucoma was at a ratio of 7:3. Buphthalmos occurred in males and females at a ratio of 2:1. Bilateral and unilateral glaucoma was also seen at a ratio of 2:1. Seventy-five% of the patients visited the clinic within one year of birth. Secondary glaucoma occurred similarly in males and females. The incidence of bilateral and unilateral glaucoma was also similar. Of 14 patients with Sturge-Weber's syndrome, 5 also suffered from Klippel-Trenaunay's syndrome. In addition to these facts, one case with specific Peter's anomary showed evidence of chromosomal abnormality.

Adolescent↗

[Riegers' anomaly with signs of hydrophthalmia and spontaneous pressure regulation].

Several members of two families with Rieger's anomaly were found to have signs of hydrophthalmia (enlarged corneas, Descemet ruptures, optic disc damage). Two of them revealed normal intraocular pressures during later life without medical or operative treatment. Obviously a spontaneous pressure regulation had occurred. A delayed differentiation of the trabecular meshwork is possibly the cause of self-regulation in these two cases of Rieger's anomaly as in case with congenital glaucoma.

Adolescent↗

[Results of treatment with timolol in problematic cases (author's transl)].

The authors report on the effect of timolol in cases of secondary glaucoma and buphthalmus in 143 eyes. Constant regulation of intraocular pressure was achieved by treatment with timolol in 67 eyes. A remarkable effect was observed in cases of complicated buphthalmus. The results were least favorable in cases of hemorrhagic secondary glaucoma.

Glaucoma↗

[Review of 402 goniotrephinations].

In a review of 402 goniotrephinations the preoperative diagnosis was open-angle glucoma in 61%, chronic congestive glaucoma in 21%, acute glaucoma in 11%, secondary glaucoma in 5%, and juvenile glaucoma in 2%. In 77% of the eyes followed for periods of up to seven years IOP returned to normal. Supplementary local therapy or digital eyeball massage raised the percentage of eyes with normal pressure values to 92,8%. Visual acuity was maintained or improved in 76%. There was no case of visual field defect during the early postoperative period, and no correlation was found between the regulation of IOP and the condition of the filtering bleb. In 10,4% complications occurred during the early postoperative period and in 1% late complications were seen. In 45% of the secondary glaucoma cases and in three out of seven cases of buphthalmus IOP was normalized.

Eye↗

[Juvenile nevoxanthogranuloma of the iris].

Juvenile Xanthogranuloma of the iris is a rare but benign disease of infants. The iris is swollen and of yellowish color, there are exsudates in the anterior chamber and occasionally spontaneous hyphema may occur. Secondary glaucoma with edema of the corneal epithelium and hydrophthalmus are often seen. Treatment consists in topical application of steroids, sometimes combined with pressure-lowering medication.

Corneal Diseases↗

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.

Primary congenital glaucoma (Buphthalmos) is an autosomal recessive eye disorder, postulated to result from developmental defects in the anterior eye segment. Previously, we reported two chromosomal locations for this condition on 2p21 (GLC3A) and 1p36 (GLC3B) respectively. In this study, heritable mutations of human cytochrome P4501B1 gene (CYP1B1) in affected individuals of five well-characterized families linked to the GLC3A locus are described. CYP1B1 gene has previously been mapped within the GLC3A candidate region and its expression in the trabecular meshwork cells has been demonstrated in this study. Three different homozygous mutations were identified and characterized: a 13 bp deletion in exon III; an insertion of a single cytosine base in exon II; and a larger deletion affecting the 5' end of exon III and the adjacent intronic region. All of these are frameshift mutations that are predicted to remove domains essential for the function of the CYP1B1 protein. Therefore, it is expected that all these mutations result in functional null alleles. The mutations detected in the affected members of these families were not present in 470 chromosomes from randomly selected normal individuals, thus strongly suggesting that CYP1B1 is the gene for the GLC3A locus on 2p21. The results are discussed in the context of the earlier hypothesis that 'drug-metabolizing' enzymes might modulate the processes of growth and differentiation by controlling the steady-state-levels of oxygenated growth-effector molecules.

Amino Acid Sequence↗

Penetrating keratoplasty for endothelial decompensation in eyes with buphthalmos.

PURPOSE: To evaluate the prognosis and complications of penetrating keratoplasty (PKP) for corneal decompensation in eyes with buphthalmos and to analyze the risk factors for graft failure. PATIENTS AND METHODS: Clinical records of 13 adult and three pediatric patients who underwent PKP for endothelial decompensation with a previous diagnosis of congenital glaucoma of a total of 3,663 corneal transplantations performed in our department between January 1987 and December 2001 were reviewed retrospectively. During the study period, a total of 33 PKPs was performed in 20 eyes with buphthalmos. The median age of the patients at the time of PKP was 39 years (range, 3 to 72). All patients had a history of intraocular surgery, including multiple glaucoma surgeries, cataract extraction, and PKP. The impact of pre-, intra-, and postoperative factors on graft failure and duration of graft clarity was analyzed. RESULTS: Fifty-five percent (11/20) of the eyes received only one graft, 25% (5/20) received two, and 20% (4/20) received three grafts. During a mean follow-up of 87.2 months (range, 4.5-72), graft failure occurred in 18 of 33 grafts (54%). Seven (7/18, 39%) had immunologic graft rejection, and 11 (11/18, 61%) had nonimmunologic graft failure. At the end of the follow-up, 75% (15/20) of the eyes had clear grafts. Duration of graft clarity was found to be significantly shorter in regrafts compared with that of primary grafts (27.0 +/- 27.7 versus 56.4 +/- 41.0 months, p= 0.02). After PKP, intraocular pressure (IOP) was uncontrolled in 12 (12/33, 36%) grafts. Nine of 20 eyes (45%) required an average of 3.2 cyclodestructive procedures per eye for pharmacologically resistant elevated IOP. The final postoperative vision improved in 70% (14/20) of the eyes and the best visual acuity postoperatively (75% > or =20/400) was significantly better than the preoperative visual acuity (25% > or =20/400, p= 0.0001). CONCLUSIONS: Endothelial decompensation due to congenital glaucoma is a very rare indication for PKP. The incidence of graft failure is high, and nonimmunologic reasons are the leading causes of graft failure in this high-risk population. Visual acuity can be significantly improved but is usually still very limited by advanced glaucomatous optic nerve damage and amblyopia. Efficient control of IOP before and after PKP is mandatory in eyes with buphthalmos to avoid graft failure and progress of glaucomatous optic nerve atrophy.

Adolescent↗

Retinal detachment in eyes with congenital glaucoma.

Five patients with congenital glaucoma were treated for complicated retinal detachment. All patients underwent a pars plana vitrectomy and fluid/gas or fluid/silicone exchange. The technical difficulties of operating on buphthalmic eyes are described. Due to subretinal reproliferation, corneal decompensation, and pressure elevation, the functional prognosis is still poor.

Adult↗