SR544

Type 2 Usher Syndrome (IB1b)

Male

Male

SR544

Type 2 Usher Syndrome (IB1b)

Male

Male

Visit at age: 67 years

Fundus Photography - Right - 20/100 +2 cc

Exemplar

Fundus Photography - Left - Hand Motion 1' cc

Exemplar

Fundus Montage - Right - 20/100 +2 cc

Exemplar

Fundus Montage - Left - Hand Motion 1' cc

Exemplar

Goldmann Visual Field - Right - 20/100 +2 cc

Exemplar

Optical Coherence Tomography - Right - 20/100 +2 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion 1' cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 +2 cc

Exemplar

Infrared Fundus Photograph - Left - Hand Motion 1' cc

Exemplar

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Type 2 Usher Syndrome CLRN1 Asn48Lys AAT>AAG Asn48Lys AAT>AAG AR
Gene:
Allele 1:
Asn48Lys AAT>AAG
Allele 2:
Asn48Lys AAT>AAG
Inheritance:
AR
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