On this page, you will find information about a UDN participant. Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Male, age 17, with progressive vision loss, eye abnormalities, elevated eye pressure, and delayed speech and language development
Feb 04, 2025
The participant was born full term. His mother smoked tobacco during pregnancy and used alcohol prior to knowledge about pregnancy but otherwise had an uncomplicated birth history. He was born with an undescended testicle (cryptorchidism) and had a surgical repair at 16 months old. His replaced testicle did not grow, so he had a surgical removal at age 4.
At 2 months old, he was diagnosed with a missing piece of tissue in both eyes, appearing as a black notch at the edge of the pupil (bilateral colobomas). They have worsened over time and are more noticeable in his left eye.
Continuous vision problems, including night vision blindness and peripheral vision loss, have led to various diagnoses over the years. At 2 years old, the participant was diagnosed with elevated eye pressure (bilateral glaucoma). Around 7 years old, he was diagnosed with additional eye abnormalities (anterior segment dysgenesis with bilateral iris hypoplasia with colobomas, glaucoma). Around age 8, he was also diagnosed with vision loss (rod-cone dystrophy).
Around 3 years ago, he had an episode of acute vision loss that lasted about 6 hours, although his vision returned to normal. 3 weeks later, the participant developed 3 spots in his left eye that led to complete vision loss. The right eye has gradually worsened in vision over time.
The participant also has a history of delayed speech and language development. He has difficulties making the movements for speech (speech apraxia). With the help of speech therapy, he started speaking in full sentences at 3.5 years old. He was diagnosed with ADHD at 5 years old and has an Individualized Education Plan (IEP) in school.
Top 4 symptoms:
Organized head to toe:
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
| Gene | Inheritance | Position (hg19) | Transcript | DNA Change | Protein |
|---|---|---|---|---|---|
| DVL3 | Autosomal dominant | chr3:g.183884385T>A | NM_004423.4 | c.981-9T>A | N/A |
| PARD6B | Autosomal dominant | chr20:g.49366667dup | NM_032521.3 | c.761dup | p.N254Kfs*17 |
| OCRL | X-linked inheritance | chrX:g.128710533A>G | NM_000276.4 | c.2115+4A>G | N/A |
| APOB | Unknown | chr2:g.21255247G>A | NM_000384.3 | c.1331C>T | p.Ala444Val |
| TRPM1 | Unknown | chr15:g.31359262_ 31359265del | NM_002420.6 | c.552+3_552+6del | N/A |
| TRPM3 | Unknown | chr9:g.73225545C>A | NM_020952.6 | c.2152G>T | p.Val718Leu |
If this participant sounds like you or someone you know, please contact us!