Phenotype #0000313879
| Individual ID |
00422675 |
| Associated disease |
- |
| Phenotype details |
transmission electron microscopy of the cells: characteristic membrane-bounded inclusions in different cell types of the skin; in secretory cells of the eccrine sweat glands and blood vessels (endothelial and smooth muscle cells) many pleomorphic inclusions (1-2 um diameter), mixed rectilinear, curvilinear, and fingerprint lamellar profiles, some of the inclusions displayed a more pseudovacuolar aspect (2-3 um diameter); clinical neurological and ophthalmological assessment: 4y5m: a subnormal ; best corrected visual acuity; 5y: ; best corrected visual acuity right/left eye: 0.13 in both eyes, without correction; fundus: central macular abnormalities in keeping with outer retinal atrophy, fishtail flecks typical of Stargardt disease; optical coherence tomography of the macula at age 5 years: selective thinning of the outer retinal layers, more pronounced of those representing the photoreceptors, area of atrophy generally broader than what is typical seen at an early stage Stargardt; 8y, BCVA: 0.07 in both eyes; funduscopy: expansion of the central macular atrophic area surrounded by a hyperautofluorescent ring on blue light autofluorescence imaging; full-field flash electroretinogram (ERG) at both ages: in keeping with a generalized rod-cone dystrophy, with additional post-photoreceptor involvement as evidenced by a more pronounced reduction of the b-wave than the a-wave in the maximal combined rod-cone response (reduced b/a-ratio); optical coherence tomography at age 8: the area of outer retinal atrophy in the macula had increased, in keeping with the increase of the funduscopic lesion; 10y: vision decreased to counting fingers in both eyes, white light and infrared reflectance fundus photography: further expansion of the area of macular atrophy; rapid decline of generalized retinal function illustrated by complete absence of all retinal responses on full-field flash ERG; optical coherence tomography: further extension of the area of outer retinal atrophy in the macula; fundus autofluorescence: extensive retinopathy is reflected by a less well-defined hyperautofluorescent ring in central macula, surrounded by more diffuse hyperautofluorescence within and beyond vascular arcades, including the retinal midperiphery; near-infrared reflectance imaging: fine vertical striations in the interpapillomacular bundle, as previously described in mid to later stage CLN3-related maculopathy; striations visible on optical coherence tomography as fine cobblestone-like abnormalities of the inner limiting membrane; neurological investigation: electroencephalography: no clear epileptiformic discharges, even after intermittent light stimulation; magnetic resonance imaging of the brain initially classified as normal, upon further inspection of T2 weighted images, signs of cerebellar atrophy as well as mild atrophy of the supratentorial cortex; cerebellar atrophy also visible on T1 weighted sagittal images; 12y: (currently) no epileptic seizures or ataxia have occurred |
| Diagnosis/Initial |
Stargardt disease |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
juvenile isolated maculopathy |
| Age/Examination |
12y (12 years) |
| Age/Diagnosis |
- |
| Age/Onset |
5y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-11-10 17:31:57 +01:00 (CET) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
