| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
21 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
10 YR |
| Age at Diagnosis(If not a control) |
18 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: |
WHOLE GENOME AND NEXT GENERATION SEQUENCING DETECTED A HETEROZYGOUS AUTOSOMAL DOMINANT LIKELY PATHOGENIC VARIANT IN THE PRPF31 GENE (NM_015629.3): C.1165C>T (P.GLN389*, NP_056444.3); A LIKELY PATHOGENIC VARIANT IN MERTK (NM_006343.2) WAS ALSO DETECTED: C.773C>A (P.ALA258GLU, NP_CC6334.2), RS352762; REFERENCE GENOME GRCH38 |
| Zygosity: |
Heterozygous
Notes: A VARIANT IN PRPF31 HAS BEEN IDENTIFIED IN AN INDIVIDUAL WITH RETINITIS PIGMENTOSA (PMID: 30337596); INDIVIDUALS WITH PATHOGENIC VARIANTS IN RIMS1 HAVE AUTOSOMAL DOMINANT CONE-ROD DYSTROPHY 7 |
| Other variants: |
OTHER HETEROZYGOUS VARIANTS INCLUDE AN AUTOSOMAL DOMINANT VARIANT OF UNCERTAIN SIGNIFICANCE (VOUS) IN RIMS1 (NM_014989.5): C.1088G>T (P.ARG363LEU, NP_055804.2), RS371189625; A LIKELY PATHOGENIC VARIANT IN ALMS (NM_015129.4): C.6299C>G (P.SER2100TRP, NP_056935.4); A VARIANT OF UNKNOWN SIGNIFICANCE IN ALMS (NM_015120.4): C.10382-52A>G; A LIKELY BENIGN VARIANT IN RP1 (NM_006269.2): C.4250T>C (P.LEU1417PRO, NP_006260), RS139294220; A LIKELY PATHOGENIC FRAMESHIFT VARIANT IN TMEM67 (NM_153704.6): C.579_580DELAG (P.GLY195ILEFSTER13); A VARIANT IN WFS1 (NM_001545853.1): C.1071G>A (P.MET357ILE, NP_001139325.1) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
18 YEARS |
| Age at Diagnosis: |
10 YEARS; DIAGNOSED BY AN EYE RETINA SPECIALIST |
| 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: |
ROD-CONE DYSTROPHY, NIGHT BLINDNESS |
| 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: |
UNDERWENT HEIDELBERG SD-OCT INCLUDING BLUE FUNDUS AUTOFLUORESCENCE (BL-FAF); HAD PRESERVED CENTRAL MACULA WITH A HYPERFLUORESCENT RING IN BOTH EYES; IN THE OCT SCAN, THE ELLIPSOID ZONE AREA WAS 6.46 MM^2 IN THE RE AND 7.61 MM^2 IN THE LE; VISUAL FIELD (HUMPHREY SITA STND 24-2) MD IN RE WAS -8.39 AND IN LE WAS -8.35; BCVA: RE 6/6, LE 6/6; ERG NEGATIVE RESPONSE WITH MAXIMUM SCOTOPIC RESPONSES: RE - A WAVE 26.5 MICROVOLT, B-WAVE 13 MICROVOLT, LE - A WAVE 18.2 MICROVOLT, B-WAVE 18 MICROVOLT; PHOTOPIC ERG SHOWED SIMILAR RESPONSE |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab. |