Correlation of Visual Function Impairment and Oct Findings in Patients with Stargardt Disease and Fundus Flavimaculatus

Abstract

Purpose

To investigate the relationship between morphologic lesions of the retina and functional abnormalities in patients with Stargardt disease (STGD) and fundus flavimaculatus (FFM).

DESIGN. Case-controlled, prospective, comparative observational study.

Methods

A complete ophthalmologic examination, including best-corrected visual acuity (BCVA) and optical coherence tomography (OCT), was performed in 61 eyes of 32 consecutive patients with STGD/FFM and in 60 eyes of 30 matched healthy control subjects. Furthermore, fundus-related perimetry was performed in 12 of the affected eyes.

Results

The age ranged from 21 to 71 years in STGD/FFM patients and from 21 to 72 years in controls. BCVA ranged from 20/20 to 20/400 and from 20/20 to 20/32, respectively, in STGD/FFM patients and in controls. A foveal thinning was found by OCT Stratus in almost all cases (average 160 μm) compared with controls (average 210 μm) (pp<0.001). BCVA impairment significantly correlated to the degree of foveal thinning (r2=0.16; p=0.0014). Moreover, in STGD/FFM patients the authors observed two types of hyperreflective deposits which were not correlated with BCVA impairment or foveal thinning. In addition, fundus-related perimetry revealed a stable fixation in 8/12 eyes, that was predominantly central in only 4 of these eyes. A smaller degree of foveal thinning correlated to a more stable fixation (p=0.0108), even if not predominantly central (p=0.0218).

Conclusions

In this series, lower visual acuity and unstable fixation correlated with a greater transverse foveal thinning. OCT and fundus-related perimetry may be useful tools in STGD/FFM patients.

Keywords

Fundus flavimaculatus Fundus-related perimetry Microperimetry Optical coherence tomography Retinal dystrophy Stargardt disease

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References

Stargardt

Ueber familiare progressive degeneration in der makulagegend des Auges. Albrecht V Graefes Arch Ophthalmol 1909; 71: 534–50.

Cibis

G.W.

, Morey

, Karris

D.J.

Dominantly inherited macular dystrophy with flecks (Stargardt). Arch Ophthalmol 1980; 98: 1785.

Merlin

, Landau

Abnormal findings in relatives of patients with juvenile hereditary macular degeneration (Stargardt's disease). Ophthalmologica 1970; 161: 1.

Franceschetti

, Francois

Fundus flavimaculatus. Arch Ophthalmol Rev Gen Ophthalmol 1965; 25: 505–30.

Allikmets

, Singh

, Sun

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997; 15: 236–46.

Cremers

F.P.

, van de Pol

D.J.

, van Driel

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 1998; 7: 355–62.

Rozet

J.M.

, Gerber

, Souied

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet 1998; 6: 291–5.

Aaberg

T.M.

Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. Trans Am Ophthalmol Soc 1986; 84: 453–87.

Lois

, Holder

G.E.

, Bunce

, Fitzke

F.W.

, Bird

A.C.

Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol. 2001; 119: 359–69.

10.

Rotenstreich

, Fishman

G.A.

, Anderson

R.J.

Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. Ophthalmology 2003; 110: 1151–8.

11.

Gerth

, Andrassi-Darida

, Bock

, Preising

M.N.

, Weber

B.H.

, Lorenz

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch Clin Exp Ophthalmol 2002; 240: 628–38.

12.

Klevering

B.J.

, van Driel

, van de Pol

D.J.

, Pinckers

A.J.

, Cremers

F.P.

, Hoyng

C.B.

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene. Br J Ophthalmol 1999; 83: 914–8.

13.

Holz

F.G.

Autofluorescence imaging of the macula. Ophthalmologe 2001; 98: 10–8.

14.

Von Ruckmann

, Fitzke

F.W.

, Bird

A.C.

In vivo autofluorescence in macular dystrophies. Arch Ophthalmol 1997; 115: 609–15.

15.

Souied

, Kaplan

, Coscas

Macular dystrophies. J Fr Ophtalmol 2003; 26: 743–62.

16.

Querques

, Leveziel

, Benhamou

, Voigt

, Soubrane

, Souied

E.H.

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography. Br J Ophthalmol 2006; 90: 1157–62.

17.

Ergun

, Hermann

, Wirtitsch

Assessment of central visual function in Stargardt's disease/fundus flavimaculatus with ultrahigh-resolution optical coherence tomography. Invest Ophthalmol Vis Sci 2005; 46: 310–6.

18.

Hargitai

, Zernant

, Somfai

G.M.

Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease. Invest Ophthalmol Vis Sci 2005; 46: 4402–8.

19.

Holz

F.G.

Autofluorescence imaging of the macula. Ophthalmologe 2001; 98: 10–8.

20.

Von Ruckmann

, Fitzke

F.W.

, Bird

A.C.

In vivo autofluorescence in macular dystrophies. Arch Ophthalmol 1997; 115: 609–15.

21.

Bellmann

, Hvlz

F.G.

, Schapp

Topography of fundus autofluorescence with a new confocal scanning laser ophthalmoscope. Ophthalmologe 1997; 94: 385–91.

22.

Klein

B.A.

, Krill

A.E.

Fundus flavimaculatus. Clinical, functional and histopathological observations. Am J Ophthalmol 1967; 64: 3–23.

23.

Eagle

R.C.

, Lucier

A.C.

, Bernadrdino

V.B.

, Yanoff

Retinal pigment abnormalities in fundus flavimaculatus. Ophthalmology 1980; 87: 1189–200.

24.

Gloesmann

A.M.

, Hermann

, Schubert

, Sattmann

, Ahnelt

P.K.

, Drexler

Histological correlation of pig retinal stratification with ultrahigh resolution optical coherence tomography. Invest Ophthalmol Vis Sci 2003; 44: 1696–703.

25.

Drexler

, Morgner

, Ghanta

R.K.

ultrahigh resolution ophthalmologic optical coherence tomography. Nat Med 2001; 7: 502–7.

26.

Anger

E.M.

, Unterhuber

, Hermann

Ultrahigh resolution optical coherence tomography of the monkey fovea: identification of retinal sublayers by correlation with semi-thin histology sections. Exp Eye Res 2004; 78: 1117–25.