June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Reversal of Cystoid Macular Edema in Gyrate Atrophy Patients
Author Affiliations & Notes
  • Dan Heller
    Department of ophthalmology, Assaf Harofe Medical center, Rehovot, Israel
  • Chen Weiner
    Matlow’s Ophthalmogenetic laboratory, Assaf Harofe Medical Center, Zerifin, -, Israel
    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Iris Nasie
    Matlow’s Ophthalmogenetic laboratory, Assaf Harofe Medical Center, Zerifin, -, Israel
  • Yair Anikster
    Metabolic Diseases Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel
  • Yuval Landau
    Metabolic Diseases Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel
  • Tal Koren
    Matlow’s Ophthalmogenetic laboratory, Assaf Harofe Medical Center, Zerifin, -, Israel
  • Russell Pokroy
    Department of ophthalmology, Assaf Harofe Medical center, Rehovot, Israel
  • Adi Abulafia
    Department of ophthalmology, Assaf Harofe Medical center, Rehovot, Israel
  • Eran Pras
    Department of ophthalmology, Assaf Harofe Medical center, Rehovot, Israel
    Matlow’s Ophthalmogenetic laboratory, Assaf Harofe Medical Center, Zerifin, -, Israel
  • Footnotes
    Commercial Relationships   Dan Heller, None; Chen Weiner , None; Iris Nasie, None; Yair Anikster, None; Yuval Landau, None; Tal Koren , None; Russell Pokroy, None; Adi Abulafia, None; Eran Pras, None
  • Footnotes
    Support  This study was supported by the Clair and Amedee Maratier Institute for the Study of Blindness and Visual Disorders, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. This work was also supported in part by the Consortium for Mapping Retinal Degeneration Disorders in Israel; funded by the Foundation for Fighting Blindness (FFB) Grant no.BR-GE-0214-0639-TECH, and the 'Lirot' Association – The Israeli research association for eye health and blindness prevention (http://lirot.org).
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 3217. doi:
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    • Get Citation

      Dan Heller, Chen Weiner, Iris Nasie, Yair Anikster, Yuval Landau, Tal Koren, Russell Pokroy, Adi Abulafia, Eran Pras; Reversal of Cystoid Macular Edema in Gyrate Atrophy Patients. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3217.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Gyrate atrophy (GA) of the choroid and the retina is an autosomal recessive disorder related to mutations in the ornithine-aminotransferase gene (OAT). This study reports the presentation of two families with GA. The aim of this study was to show the effect of low protein diet and pyridoxine treatment on accompanying macular edema.

Methods : Two unrelated patients with GA were studied for the effect of low protein diet (≤ 0.8 g/kg/d), and oral administration of pyridoxine (500mg/day) on serum ornithine levels, best corrected visual acuity (BCVA), slit-lamp, OCT, and auto-fluorescence findings.
Blood samples for DNA, mRNA and exons of the OAT gene were screened for mutations, and splicing effect when relevant.

Results : At presentation both patients manifested typical ophthalmic features of GA including cystoids macular edema (CME). One patient also exhibited optic nerve head astrocytic hamartomas. Following treatment, in patient A, ornithine levels have lessened by 178 μmol/l, BCVA improved from 6/120 in both eyes to 6/30 OD and 6/21 OS. Central macular thickness (CMT) decreased by 270 µm OD and 161 µm OS.
Patient B showed improvement in BCVA from 6/15 to 6/12 OD and from 6/12 to 6/8.5 OS. CMT decreased by 80 µm OD and 47 µm OS. Ornithine levels decreased by 140 μmol/l. In both patients the effect remained for 14 months.
OAT sequencing identified two known mutations: OAT c.159delC; p.H53Qfs7*, c.386C>T_p.Thr129Ile (patient A, patient B respectively) and a novel splice site mutation, c.900+1 G>A (patient B).

Conclusions : We have identified a novel mutation and two formerly described mutations in patients with GA. Of them, one patient comprised an unusual phenotype including bilateral astrocytic hamartomas. We have recognized for the first time, improvement in CME following treatment with low protein intake and pyridoxine supplement. This finding may have significance in the understanding of treatment options for macular edema regardless of underlying etiology.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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