StoneRounds Disease Atlas SR2200
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StoneRounds Disease Atlas SR2200

Case

SR2200

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Blue Cone Monochromacy (IA2e)

Male

Male

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SR2200

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Student Mode

Blue Cone Monochromacy (IA2e)

Male

Male

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Age at visit: 55 years
OD OS
20/125 +2
20/125 +1

History

This 30 year old man has had reduced acuity and abnormal color vision OU since early childhood.

Color Vision:     Correctly identified the Ishihara control plate but none of the 13 diagnostic plates, OU.
Refraction OD:     -2.50 +2.50 x 10
Refraction OS:     -3.00 +2.50 x 5

Pedigree

Teaching Points

The clinical features supporting the diagnosis of blue cone monochromacy in this patient include: stable reduced acuity, photophobia and very poor color vision since early childhood, a normal fundus appearance, normally sighted parents and three similarly affected male relatives on the maternal side of his family.

Age at visit: 30 years
ODOS
20/60
20/60
Age at visit: 55 years
ODOS
20/125 +2
20/125 +1
ODOS
20/125 +2
20/125 +1
ODOS
20/125 +2 OCT Stack
20/125 +1 OCT Stack
ODOS
20/125 +2
20/125 +1
Age at visit: 56 years
ODOS
20/125 -1 OCT Stack
20/160 +2 OCT Stack
ODOS
20/125 -1
20/160 +2
Age at visit: 58 years
ODOS
20/100 OCT Stack
20/125 OCT Stack
ODOS
20/100
20/125
Age at visit: 59 years
ODOS
20/100 -1 OCT Stack
20/125 -2 OCT Stack
ODOS
20/100 -1
20/125 -2

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Blue Cone Monochromacy L/M OPSIN Cluster Deletion of LW opsin genes + Gly204Ser GGC>AGC in single MW opsin gene   XL
Disease:
Blue Cone Monochromacy
Gene:
L/M OPSIN Cluster
Allele 1:
Deletion of LW opsin genes + Gly204Ser GGC>AGC in single MW opsin gene
Allele 2:
 
Inheritance:
XL
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