Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.
OBJECTIVE
To describe an unusual form of dot-and-fleck retinopathy in a slower progressive form of X-linked Alport syndrome, caused by a novel missense mutation in the COL4A5 gene.


METHODS
Ophthalmic examination, polymerase chain reaction, and single-strand conformational polymorphism analysis of genomic DNA were performed in the proband.


RESULTS
Ophthalmoscopy revealed classic dot-and-fleck retinopathy but located in an unusual site. A novel COL4A5 gene mutation changing glycine to cysteine at 177 was identified.


CONCLUSIONS
Although there is no correlation between mutation site and the resulting phenotype in Alport syndrome, our findings suggest that further novel mutations and different ocular manifestations may be associated with Alport syndrome.
Blasi
M A
MA
Department of Ophthalmology, University of L'Aquila, (M.A.B., R.P.), L'Aquila, Italy. ma.blasi@flashnet.it
Rinaldi
R
R
Renieri
A
A
Petrucci
R
R
De Bernardo
C
C
Bruttini
M
M
Grammatico
P
P
D000328:Adult; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D014792:Visual Acuity; D014960:X Chromosome / Q000235:genetics
D003094:Collagen