Cone-Rod Dystrophy With Serpentine-like Retinal Deposits

Abstract

To describe the clinical and electrophysiologic findings in a novel retinal dystrophy. Methods: Ophthalmologic and electrophysiologic examinations were performed in 3 affected members of 1 family: a 10-year-old girl, her 30-year-old mother, and her 59-year-old maternal grandfather. Electrooculography (EOG) and electroretinography (ERG) were performed according to the standards of the International Society for Clinical Electrophysiology of Vision. Results: In all 3 family members, gray, serpentine-like deposits were seen at the level of the retinal pigment epithelium (RPE). These were most distinct in the child, less prominent in her mother, and barely visible in the grandfather. Visual acuity was 20/25 OU in the child and 20/ 200 OU in both adults. Visual field testing showed normal outer limits and small paracentral scotomas in both adults. Electroretinographic recording revealed slightly reduced amplitudes in the 10-year-old girl, cone dysfunction in her mother, and cone-rod dysfunction in the grandfather. Multifocal ERG responses were reduced but recordable in the mother. The EOG light peak amplitude was normal in both females and borderline in the grandfather. The light peak was delayed in all 3 patients. Conclusions: Similar deposits at the level of the RPE have not been described in other inherited retinal dystrophies. This family appears to have a novel form of conerod dystrophy with deposits at the level of the RPE and probable autosomal dominant inheritance.

The Clinical Applications of Multifocal Electroretinography: A Systematic Review

“…80,93,131,149,152,154,169,282 The main mfERG findings in patients with cone dystrophy include severe reductions in response amplitudes with delays in implicit times or complete absence of mfERG responses, especially in the central retina. 93,131,152,154,169,282 Holopigian et al evaluated both the cone-and rod-mediated mfERG in patients with cone dystrophy. 93 It was shown that patients had large reductions in cone-mediated mfERG amplitude and delays in implicit time which were more marked in the central retina.…”

Martinique (West Indies) Crinkled Retinal Pigment Epitheliopathy

“…However, the fluorescence pattern indicated faint local blockage of the background, very different from the present findings. 2 In dominantly inherited Müller cell sheen dystrophy, prominent glistening light reflections may result in a whitish reticular pattern of the fundus, 3 but the pattern of railroad track-like folds is superficial, very different from the one reported here, as are the fluorescein angiography pictures.…”

Multifokales ERG bei zentraler areolärer Aderhautdystrophie

“…Die Diagnose der Erkrankung stützte sich auf die typische funduskopisch sichtbare Pathologie mit bi-Ein multifokales ERG (mf-ERG) [20] hat sich als geeignete Untersuchungsmethode bei zahlreichen erworbenen und angeborenen, zentralen umschriebenen Netzhauterkrankungen sowohl zur Diagnostik als auch zur Verlaufskontrolle erwiesen [1,2,3,4,5,7,8,9,10,16,17,19]. Der Vorteil gegenüber dem Ganzfeld-ERG liegt in einer gezielten Austestung fokaler Areale des hinteren Augenpoles, die oft aufgrund ihrer geringen Ausdehnung im herkömmlichen Ganzfeld-ERG nicht erfasst werden.…”