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. |