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Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17.

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

Author information

1
Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
2
Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
3
Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
4
Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA. Electronic address: arlene-drack@uiowa.edu.

Abstract

PURPOSE:

GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progress to mild retinitis pigmentosa.

DESIGN:

Retrospective case series.

METHODS:

Multicenter study of 5 patients (3 male, 2 female).

RESULTS:

All patients presented with night blindness since childhood. Age at referral was 9-45 years. Length of follow-up was 1-7 years. Best-corrected visual acuity at presentation ranged from 20/15 to 20/30 and at most recent visit averaged 20/25. No patient had nystagmus or high refractive error. ISCEV standard electroretinography revealed nondetectable dark-adapted dim flash responses and reduced amplitude but not electronegative dark-adapted bright flash responses with similar waveforms to the reduced-amplitude light-adapted single flash responses. The 30 Hz flicker responses were relatively preserved. Macular optical coherence tomography revealed normal lamination in 3 patients, with abnormalities in 2. Goldmann visual fields were normal at presentation in children but constricted in 1 adult. One child showed loss of midperipheral fields over time. Fundus appearance was normal in childhood; the adult had sparse bone spicule-like pigmentation. Full-field stimulus testing (FST) revealed markedly decreased retinal sensitivity to light. Dark adaptation demonstrated lack of rod-cone break. Two patients had tritanopia. All 5 had compound heterozygous mutations in GUCY2D. Three of the 5 patients harbor the Arg768Trp mutation reported in GUCY2D-associated Leber congenital amaurosis.

CONCLUSIONS:

Autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur.

PMID:
29559409
DOI:
10.1016/j.ajo.2018.03.021

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