SR340

MCL (IB6)

Female

Female

SR340

MCL (IB6)

Female

Female

Highlighted Images

Age at visit: 65 years
OD OS

History

This 65 year old woman has had subnormal acuity, microcephaly and mildly reduced intelligence since childhood. As a child, she had "puffy feet."

Refraction OD:     plano +2.00 x 275
Refraction OS:     -1.25 +2.75 x 117 (pseudophakic)

Pedigree

Teaching Points

The clinical features supporting the diagnosis of "microcephaly-chorioretinopathy-lymphedema" (MCL) syndrome in this patient include: a pigmented chorioretinopathy extending from the macula to the inferonasal periphery of both eyes; microcephaly; stable subnormal intelligence; subnormal acuity; and, a history of puffy feet as a child.

Age at visit: 63 years
Age at visit: 63 years (Visit 2)
Age at visit: 65 years
Age at visit: 66 years
Age at visit: 67 years
Age at visit: 69 years
Age at visit: 70 years
Age at visit: 71 years
Age at visit: 74 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
MCL KIF11 IVS10+3 A>C   AD
Disease:
Gene:
Allele 1:
IVS10+3 A>C
Allele 2:
 
Inheritance:
AD
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