PERIPHERAL AVASCULAR RETINA WITH DISK ANOMALY AND HIGH MYOPIA: A Novel Association in a XXXX .

@entity1 @entity5066 @entity1797 @entity18241 @entity3458 @entity735 @entity2788 @entity1781 @entity74 @entity941 @entity1011 @entity346 @entity1714 @entity2530
PURPOSE: To describe a family pedigree with a previously undescribed association of autosomal dominantly @entity2788 . METHODS: Case series study performed on 15 family members. Examination included history taking, visual acuity, intraocular pressure, slit-lamp, gonioscopy, indirect ophthalmoscopy (10 members), @entity941 angiography (5 members), general examination and renal ultrasound (4 members), and hemoglobin electrophoresis for the proband and another member. RESULTS: Family pedigree revealed @entity74 . Visual acuity ranged from 6/36 to no light perception. Examination revealed @entity735 and @entity5066 bulbi in 11 eyes. Indirect ophthalmoscopy for 11 eyes revealed evidence of an ocular triad of peripheral @entity2530 , disk anomaly (cavitary @entity1781 or @entity1797 ), and tessellated fundus of @entity1714 . The authors also observed new vessels elsewhere with or without extensive subretinal exudations in 6 eyes. All @entity1 with any residual vision (up to perception of light) had @entity346 . Four affected members underwent general examination, renal ultrasound, and serum @entity1011 level (to exclude @entity18241 ), and all were normal. Hemoglobin electrophoresis (to exclude @entity3458 ) 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.
