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Biomedical subjects

M D Mohamed

Publications and source records attributed to M D Mohamed.

6 recordsLinked to original sources

Ultrasound biomicroscopy in the management of melanocytoma of the ciliary body with extrascleral extension.

AIM: To demonstrate the ultrasound biomicroscopic features of a ciliary body melanocytoma with extrascleral extension, and a conservative approach in its management. METHOD: Observational case reports. Two cases of ciliary body melanocytoma were suspected at presentation, confirmed histologically by biopsy, and subsequently monitored for change by serial ultrasound biomicroscopic imaging. The main outcome measures were anatomical and functional preservation of the eye, with avoidance of formal surgical excision. RESULTS: Ultrasound biomicroscopy allows clear visualisation of the tumours, and the ultrasound characteristic is of low homogeneous internal reflectivity. 5 year follow up with observation only demonstrates success with this conservative management approach. Histopathological evaluation confirmed melanocytoma. CONCLUSIONS: Melanocytoma is a rare tumour. However if considered in the differential diagnosis at presentation and confirmed histologically, further management with use of the ultrasound biomicroscope as an accurate mode of imaging is an acceptable technique for preservation of the eye and avoids surgical excision.

Aged↗

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

BACKGROUND: Leber's congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani family with consanguinity and a mutation in the LCA5 gene. METHODS: 13 family members including five affected individuals consented to DNA analysis and ocular examination including fundal photography. RESULTS: Ocular abnormalities are described. The most striking feature was the progression of macula abnormalities in three brothers resulting in a colobomatous appearance in the eldest compared to only mild atrophy in the youngest. The phenotypic pattern of this mutation in this Pakistani family contrasts with the "Old Order River Brethren" who were of Swiss descent, in whom the mutation was first described. CONCLUSION: The evolution of a new phenotypic picture is presented to a mutation in LCA5.

Adult↗