| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
26 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
12 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
CHM, C.700A>T (P.K234X), NONSENSE, EXON 5 |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
12 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 |
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Defective vision
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| Additional Information: |
VISUAL ACUITY GRADUALLY GETTING WORSE (OU). CENTRAL VA IS FINE, AND PERIPHERY IS WORSE. NIGHT VISION IS NOT GOOD. FLASHES OF LIGHT INTERMITTENT. OCCASIONAL FLOATERS.
SIGNIFICANT RETINAL PIGMENT EPITHELIAL DEPIGMENTATION AND LOSS, ALONG WITH ATROPHY OF THE CHOROIDAL VASCULATURE
LOST CONSIDERABLE VISUAL FIELD |
| 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: DIST CC 20/20 (RIGHT), 20/25-1+2 (LEFT)
PUPILS: DARK 3 (OU), LEFT 3 (OU), REACT MINIMAL (OU), APD NONE (OU)
TONOMETRY: PRESSURE 18 (RIGHT), 14 (LEFT)
FUNDUS EXAM: DISC - INTACT RIM (OU), MACULA - PERIPHERAL RPE ATROPHY, CENTRAL ISLAND PRESERVED, NO HEME (OU), VESSELS - PERFUSED (OU), PERIPHERY - ATTACHED, EXTENSIVE ATROPHY (OU)
OCT RETINA IMAGE: MARKED LOSS OF THE OUTER SEGMENTS, OUTER NUCLEAR LAYER AND RPE IN THE AREA BEYOND THE CENTRAL RETINA |
| Treatments and Assistive Devices |
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| Additional Testing: |
ASSISTANCE NEEDED WITH AMBULATION
HIGH RISK FOR FALLS |
| Medications |
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ALBUTEROL, MULTIVITAMIN,PANTOPRAZOLE |
| Family History |
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TWO YOUNGER BROTHERS AFFECTED BUT LESS SEVERE, CARRIER MOTHER HAS NIGHT VISION PROBLEMS. |
| Remarks |
Clinically affected; choroideremia (OU); myopic astigmatism (OU); see "Phenotypic Data" tab; reported in literature (PMID: 22183356); unaffected father is GM26373 (lymph). Two younger affected brothers. Carrier mother has night vision problems. |