To determine the genotype and the response of macular cysts to treatment with oral acetazolamide vs. topic dorzolamide in 2 brothers affected by juvenile X-linked retinoschisis (XLRS).Two brothers (18 and 20 yrs old) affected with XLRS were studied to characterize the clinical phenotype and response to pharmacological treatment. Acetazolamide (Diamox® , 375 mg/day) and dorzolamide (Trusopt® , 1 x 3/day) were administered alternatively every month, for six months. A complete ophthalmological examination including optical coherence tomography (Cirrus, Zeiss), fluorescein angioraphy (Topcon), eletroretinography and best corrected VA by Snellen charts were performed before and after this period of time. Every month patients were checked for visual acuity and OCT. DNA sequence analysis of the RS1 gene identified a hemizygous 589C>T (Arg197Cys) missense mutation in exon 6. This results in the amino acid cysteine (TGC) instead of the normal arginine (CGC). Only one brother complied to the treatment. He revealed a rapid reduction of retinal thickness and cyst extension at OCT imaging in both eyes, and an increase in visual acuity, that was more evident during acetazolamide (about 60% of initial thickness) than dorzolamide (about 30%) treatment. The other brother who did not take the treatment did not show any clinical change. This study showed that acetazolamide and dorzolamide may be effective in XLRS to reduce macular cysts and improve visual acuity. The response of macular cysts to acetazolamide was higher than to dorzolamide in our patient. However, dorzolamide may be useful as alternative drug for interval with oral acetazolamide.
Treatment With Oral Acetazolamide Or Topic Dorzolamide Of Juvenile X-linked Retinoschisis
GALANTUOMO, MARIA SILVANA;ZUCCA, IGNAZIO ALBERTO;FOSSARELLO, MAURIZIO
2013-01-01
Abstract
To determine the genotype and the response of macular cysts to treatment with oral acetazolamide vs. topic dorzolamide in 2 brothers affected by juvenile X-linked retinoschisis (XLRS).Two brothers (18 and 20 yrs old) affected with XLRS were studied to characterize the clinical phenotype and response to pharmacological treatment. Acetazolamide (Diamox® , 375 mg/day) and dorzolamide (Trusopt® , 1 x 3/day) were administered alternatively every month, for six months. A complete ophthalmological examination including optical coherence tomography (Cirrus, Zeiss), fluorescein angioraphy (Topcon), eletroretinography and best corrected VA by Snellen charts were performed before and after this period of time. Every month patients were checked for visual acuity and OCT. DNA sequence analysis of the RS1 gene identified a hemizygous 589C>T (Arg197Cys) missense mutation in exon 6. This results in the amino acid cysteine (TGC) instead of the normal arginine (CGC). Only one brother complied to the treatment. He revealed a rapid reduction of retinal thickness and cyst extension at OCT imaging in both eyes, and an increase in visual acuity, that was more evident during acetazolamide (about 60% of initial thickness) than dorzolamide (about 30%) treatment. The other brother who did not take the treatment did not show any clinical change. This study showed that acetazolamide and dorzolamide may be effective in XLRS to reduce macular cysts and improve visual acuity. The response of macular cysts to acetazolamide was higher than to dorzolamide in our patient. However, dorzolamide may be useful as alternative drug for interval with oral acetazolamide.
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