Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome.
نویسندگان
چکیده
Clinical and histopathological studies of two patients with distinctly different inherited juvenile retinal dystrophies indicate that the ocular defect in mitochondrial cytopathy involves the underlying pigment epithelium, whereas in the Laurence-Moon-Biedl syndrome the photoreceptor cells are primarily affected.
منابع مشابه
Laurence Moon Bardet Biedl syndrome (case report).
Laurence Moon Bardet Biedl Syndrome is a genetic abnormality associated with disorders like retinitis, obesity, polydactyl, learning disability. We report such a case in a 17 year old male patient.
متن کامل[Laurence-Moon-Bardet-Biedl's syndrome].
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by early onset retinitis pigmentosa, post axial polydactyly, central obesity, mental retardation, hypogonadism and kidney structural abnormalities or functional impairment.1 We report here a typical case of Laurence-Moon-Bardet-Biedl syndrome in an eleven-year old boy wit...
متن کاملLaurence-Moon-Biedl syndrome
This report describes a case of Laurence-Moon-Biedl syndrome identified ina24-monthold boy. Significant renal involvement was present with right-sided vesicoureteral reflux, cystocele, urinary tract infections, and growth arrest of the right kidney. After the development of hypertension a left renal biopsy was performed to determine if bilateral renal disease was present. Histopathological and ...
متن کاملLaurence Moon Bardet Biedl Syndrome with anaemia.
Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.
متن کاملGlomerulonephropathy of Laurence-Moon-Biedl syndrome.
A patient with Laurence-Moon-Biedl syndrome and nephrotic range proteinuria is presented. Radiological investigation of the urinary tract revealed clubbed calyces but no evidence of obstruction or vesicoureteric reflux. Renal biopsy revealed occasional sclerotic glomeruli, extensive foot-process fusion and segmental glomerular basement membrane abnormalities with negative immunofluorescence for...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 70 10 شماره
صفحات -
تاریخ انتشار 1986