PERIPHERAL AVASCULAR RETINA WITH DISK ANOMALY AND HIGH MYOPIA: A Novel Association in a Hereditary Isolated Ocular Disorder.

Purpose: To describe a family pedigree with a previously undescribed association of autosomal dominantly inherited ocular abnormalities.

Methods: Case series study performed on 15 family members. Examination included history taking, visual acuity, intraocular pressure, slit-lamp, gonioscopy, indirect ophthalmoscopy (10 members), fluorescein angiography (5 members), general examination and renal ultrasound (4 members), and hemoglobin electrophoresis for the proband and another member.

Results: Family pedigree revealed autosomal-dominant inheritance. Visual acuity ranged from 6/36 to no light perception. Examination revealed rubeosis in 7 eyes and atrophia bulbi in 11 eyes. Indirect ophthalmoscopy for 11 eyes revealed evidence of an ocular triad of peripheral avascular retina, disk anomaly (cavitary optic disk anomaly or disk dysplasia), and tessellated fundus of high myopia. The authors also observed new vessels elsewhere with or without extensive subretinal exudations in 6 eyes. All patients with any residual vision (up to perception of light) had nystagmus. Four affected members underwent general examination, renal ultrasound, and serum creatinine level (to exclude papillorenal syndrome), and all were normal. Hemoglobin electrophoresis (to exclude sickle cell retinopathy) revealed within normal values.

Conclusion: To the authors' knowledge, the aforementioned ocular triad has not been previously described, in association, with an autosomal-dominant pattern of inheritance.