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B.P. Leroy, J. Witters, J.–J. De Laey, P. Kestelyn; Progressive Rod–Cone Dystrophy With Subacute Angle–Closure Glaucoma . Invest. Ophthalmol. Vis. Sci. 2004;45(13):5153.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To describe two siblings with progressive rod–cone dystrophy (RCD) and subacute angle–closure glaucoma (ACG). Methods: A now 41–year old man presented for the first time 10 years ago with a history of headache, decreased vision and appearance of nocturnal halos. A full clinical work–up during several years of follow–up included applanation tonometry, gonioscopy, fundoscopy, fluorescein angiography (FA), and psychophysical as well as ISCEV–standard electrophysiologic tests. His younger sister presented with very similar features and underwent the same work–up. Results: At presentation BCVA was 2/10 in BE. Gonioscopy showed a very shallow AC. IOP was 23 mmHg in BE. Fundoscopy and FA showed a macular retinoschisis without macular oedema, perifoveal and peripheral drusen–like white retinal spots in BE. VF analysis revealed a bilateral central scotoma. The EOG light rise was abolished from very early onwards, whilst ERG results were compatible with a progressive RCD. IOP was well controlled after bilateral filtration surgery. VA was 10/10 in BE in his sister. High IOP required filtration surgery in her RE. Medical treatment sufficed for pressure control in her LE. Her retinal disease was identical to that of the proband. Conclusions: A novel syndrome of progressive RCD combined with subacute ACG is described. The absence of EOG light rise early in the course of the disease suggests an early involvement of the RPE in the pathogenesis. The condition is probably autosomal recessive. Surgical and/or medical treatment of the subacute ACG was successful in both siblings.
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