Autosomal dominant inheritance of iridogoniodysgenesis and cataract.

BACKGROUND: There has been only one report in the literature of iridogoniodysgenesis associated with cataracts in two brothers. In that report, the authors conclude that the condition was inherited by autosomal recessive transmission. METHODS: The authors evaluated 10 members in three generations of a family in which there is a striking prevalence of pre-senile hypermature cataract formation and iridogoniodysgenesis. In addition, historical information regarding two deceased members of the family was studied. RESULTS: Six of 10 family members evaluated have iridogoniodysgenesis. Four of five siblings have had pre-senile hypermature cataracts. Despite the iridogoniodysgenesis, there appears to be no association with glaucoma in any of these patients. CONCLUSION: The inheritance pattern of this syndrome appears to be that of autosomal dominance with variable penetrance. The authors believe that this report helps to clarify the inheritance pattern of this previously described hereditary syndrome.

Reversal of mydriasis by dapiprazole.

The effect of topical dapiprazole, an alpha-adrenergic receptor blocker, in reversing mydriasis was studied in 50 subjects who received tropicamide 1% and phenylephrine 2.5%. There was a significant difference in the decrease in pupil size between the eye that received dapiprazole and the control eye. This study suggests that dapiprazole 0.5% eye drops are effective and safe in reversing mydriasis after instillation of tropicamide 1% and phenylephrine 2.5%.

Diabetic choroidal and iris vasculature scanning electron microscopy findings.

Scanning Electron Microscopy (SEM) was used to study vascular casts of twenty-four autopsy eyes taken from patients with long-standing insulin-dependent Diabetes Mellitus. These casts were compared to casts of ten 'normal' autopsy eyes from patients without a history of diabetes or other vascular disease. The SEM findings in the choroidal vessels of the diabetic eyes included: increased tortuosity, focal vascular dilations and narrowings, hypercellularity, vascular loops and microaneurysm formation, 'drop-out' of choriocapillaries, and sinus-like structure formation between choroidal lobules in the equatorial area. In the iris, neovascularization was evident in the vascular casts in cases with clinically recognized rubeosis iridis. These findings indicate that there is significant involvement of the uveal tract in diabetic eyes. The present study strongly supports the Hidayat and Fine light microscopic observation that the diabetic choroid demonstrates significant vascular changes (e.g. narrowed vessels with possible 'drop-out' of capillaries and neovascularization). Changes in the diabetic choroid, especially in the choriocapillaris, may be a contributing factor in diabetic retinopathy, resulting in decreased oxygenation of the outer layer of the retina. Short reviews and updated information of diabetic eye disease provide some additional insights into the vascular problems in the eye.

Changes in the diabetic choroidal vasculature: scanning electron microscopy findings.

Scanning electron microscopy (SEM) was used to study vascular casts of 20 cadaver eyes according to our previously described technique. All eyes were taken from patients with long-standing diabetes mellitus type I. The SEM findings in the choroidal vessels included: increased tortuosity, dilation and narrowing, hypercellularity, vascular loop and microaneurysm formation, "drop-out" of choriocapillaries, and sinus-like structure formation between choroidal lobules. To our knowledge, these are the first SEM studies of the vascular casts performed on human cadaver eyes from diabetics.

Congenital glaucoma associated with cutis marmorata telangiectatica congenita: two case reports.

Two cases of cutis marmorata telangiectatica congenita are described in association with nevus flammeus and congenital glaucoma. Approximately 65 cases have been reported and the association with nevus flammeus and congenital glaucoma has only been reported in one of those cases. Unlike the glaucoma associated with nevus flammeus of Sturge-Weber, this type of congenital glaucoma appears to be associated with an abnormal filtration angle rather than an increased episcleral venous pressure.

Macular deposits in galactokinase deficiency.

Deficiency of the enzyme, galactokinase, is a recognized cause of "juvenile" lens opacities; these opacities are felt to be its only clinical expression. The deficiency itself is inherited as an autosomal recessive and as such is expected to be clinically manifest in the homozygote. We have recently demonstrated cataracts and associated bilateral macular deposits in a white male who is heterozygous for the deficiency of the enzyme and whose dietary intake of milk and its products is extremely high. To our knowledge, intraretinal deposits have not previously been described in patients with galactokinase deficiency, and their clinical significance and biochemical makeup can only be speculative. Dietary restriction of galactose is recommended for all individuals proven to be deficient in this enzyme, whether homozygous or heterozygous.

Progression of pseudovitelliform macular dystrophy.

Pseudovitelliform macular dystrophy is a dominantly inherited macular disorder. It is characterized by the presence of horizontally oval yellowish deposits within the maculas that are approximately one-third disc diameter in size. As classically described, progression of the lesions over a follow-up period of as long as six years has not been described and the prognosis for retention of good visual function is excellent. We report the ophthalmoscopic appearance of six eyes of three patients from a very subtle alteration of macular pigmentation to severe disruption of macular architecture, and demonstrate in one of our patients drastic deterioration in both ophthalmoscopic appearance and visual function over a three-year period of follow-up. The prognosis for retention of good vision in this disorder must include the possibility of the eventual development of severe visual impairment.

Hyphema complicating laser iridotomy.

Hyphema resulting from a laser iridotomy (iridectomy) occurred in a patient with chronic subclinical angle closure glaucoma. This complication has been described previously in patients with rubeosis iridis and uveitis and in patients receiving anticoagulant drugs, but to our knowledge, this is the first report of a hyphema resulting from a laser iridotomy in a patient having no known predisposing pathological condition, either ocular of systemic, While no complications of hyphema were encountered in this patient, we recommend that this rare complication be kept in mind whenever a laser iridotomy is contemplated.

Cytogenetic analysis of a case of "13q- syndrome" (46,XX,del 13) using banding techniques.

Many chromosomal syndromes include ocular anomalies. In the del(13q) syndrome retinoblastoma, coloboma, and microphthalmia may be present. In the del(13q) case we report, the findings include colobomas and apparent microphthalmia, although the retinoblastoma sometimes associated with this condition was not observed. More precise descriptions of the del(13q) syndrome relative to the region deleted using improved banding techniques may: (1) increase the likelihood of accurate diagnosis, (2) enhance clinical predictions, and (3) possibly further clarify the genetic control over the development of the ocular system.