| Demographic Data |
| Age at Sampling |
43 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
16 YR |
| Age at Diagnosis(If not a control) |
34 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
CHM, C.1359C>T (P.SER453=), SYNONYMOUS, EXON 11 |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
16 YEARS |
| Age at Diagnosis: |
34 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
| |
Defective vision
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| Additional Information: |
NYCTALOPIA
PERIPHERAL VISION LOSS
DECREASED CENTRAL VISION BOTH EYES
PALE PERIPHERAL FUNDUS
SUBRETINAL PIGMENT
EXTENSIVE RPE ATROPHY WITH MACULAR SPARING |
| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Optical and Audiological Testing: |
VISUAL ACUITY: 20/20CC OU |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
|
| Additional Testing: |
COMMUNICATION/LEARNING DEVICE |
| Medications |
| |
DORZOLAMIDE HCL 2% EYE DROPS
NAC |
| Family History |
| |
AFFECTED MATERNAL GRANDFATHER
CARRIER MOTHER |
| Remarks |
Clinically affected. Reported in literature (PMID: 29045269). See "Phenotypic Data" tab. Hemizygous mutation in the CHM gene c.1359C>T (p.Ser435Pro). |