Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Background/aim: Retinal flecks are commonly observed in both Stargardt disease and fundus flavimaculatus (FFM). The aim was to determine the precise localisation of these flecks within the retinal layers using Stratus optical coherence tomography (OCT). Methods: A prospective observational case series. A complete ophthalmological examination, including autofluorescence, fluorescein angiography (FA), and Stratus OCT (Carl Zeiss) was performed in 49 eyes of 26 consecutive patients with FFM. Six to 12 Stratus OCT linear scans focused on the retinal flecks were performed in each eye. Results: The age at presentation ranged from 23 years to 71 years and visual acuity ranged from 20/20 to 20/400. Hyper-reflective deposits classified into two types were observed on Stratus OCT: type 1 lesions (94% of eyes) presented as dome-shaped deposits located in the inner part of the retinal pigment epithelium (RPE) layer and type 2 lesions (86% of eyes) presented as small linear deposits located at the level of the outer nuclear layer and clearly separated from the RPE layer. Conclusions: Stratus OCT is a non-invasive instrument that provides new information on the location of flecks in FFM. The location of type 2 lesions is quite unusual among macular dystrophies; OCT may therefore be useful in the diagnosis of retinal flecks in some cases of FFM.

[1]  A. Krill,et al.  Fundus flavimaculatus. Clinical, functional and histopathologic observations. , 1967, American journal of ophthalmology.

[2]  E. Souied,et al.  [Macular dystrophies]. , 2003, Journal francais d'ophtalmologie.

[3]  F. Holz.  [Autofluorescence imaging of the macula]. , 2001, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

[4]  E. Souied,et al.  Optical coherent tomography features of malattia leventinese. , 2006, American journal of ophthalmology.

[5]  S. Merin,et al.  Abnormal findings relatives of patients with juvenile hereditary macular degeneration (Stargardt's disease). , 1970, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

[6]  K Rohrschneider,et al.  Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. , 1998, Human molecular genetics.

[7]  D. Harris,et al.  Dominantly inherited macular dystrophy with flecks (Stargardt). , 1980, Archives of ophthalmology.

[8]  Arnold Munnich,et al.  Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies , 1998, European Journal of Human Genetics.

[9]  E. Souied,et al.  Les dystrophies maculaires , 2008 .

[10]  J. François,et al.  [Fundus flavimaculatus]. , 1965, Archives d'ophtalmologie et revue generale d'ophtalmologie.

[11]  Angelika Unterhuber,et al.  Assessment of central visual function in Stargardt's disease/fundus flavimaculatus with ultrahigh-resolution optical coherence tomography. , 2005, Investigative ophthalmology & visual science.

[12]  A. Bird,et al.  Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. , 2001, Archives of ophthalmology.

[13]  R. Eagle,et al.  Retinal Pigment Epithelial Abnormalities in Fundus Flavimmaculatus , 1980 .

[14]  F W Fitzke,et al.  In vivo fundus autofluorescence in macular dystrophies. , 1997, Archives of ophthalmology.

[15]  A. Bird,et al.  Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. , 2004, American journal of ophthalmology.

[16]  Dr. K. Stargardt.  Über familiäre, progressive Degeneration in der Maculagegend des Auges , 1909, Albrecht von Graefes Archiv für Ophthalmologie.

[17]  T. Aaberg.  Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. , 1986, Transactions of the American Ophthalmological Society.

[18]  R. Eagle,et al.  Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study. , 1980, Ophthalmology.

[19]  J. Lupski,et al.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy , 1997, Nature Genetics.

[20]  N. Ghazi.  Adult-onset foveomacular vitelliform dystrophy: a study by optical coherence tomography. , 2003, American journal of ophthalmology.