Molecular and Clinical Analyses of 111 Patients with Bilateral Anterior-Segment Dysgenesis/Aniridia and Microphthalmia/Anophthalmia
Sachiko Nishina, Hazuki Anzai, Tomoyo Yoshida, Yoshito Koyanagi, Sayaka Kamada, Kumiko Kato, Kaoruko Torii, Akiko Hikoya, Mineo Kondo, Chie Sotozono, Keiko Matsubara, Maki Fukami · 2026
Read Molecular and Clinical Analyses of 111 Patients with Bilateral Anterior-Segment Dysgenesis/Aniridia and Microphthalmia/Anophthalmia by Sachiko Nishina, Hazuki Anzai, Tomoyo Yoshida, Yoshito Koyanagi, Sayaka Kamada, Kumiko Kato, Kaoruko Torii, Akiko Hikoya, Mineo Kondo, Chie Sotozono, Keiko Matsubara, Maki Fukami (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13524468.txt.
Description
Sachiko Nishina and others analyze, in a 2026 Japanese study across many centers, the genes and medical features behind two groups of eye disorders present from birth and affecting both eyes. One group covers the front of the eye, including aniridia, while the second group has abnormally small or absent eyes. Single gene causes were likely, and families needed clearer guidance.
A total of 111 patients and family members had targeted sequencing with panels covering eleven to twelve known genes per condition. Diagnoses were reached for half of the front-eye group and 37.5 percent of the small-eye group, including eleven new variants. Distinct genes led each condition, with some variants arising new and others inherited from parents with mild or distinct features. Glaucoma clustered with two genes, and systemic or neurologic problems grouped with others.
Catalog record
| CREATOR | Sachiko Nishina, Hazuki Anzai, Tomoyo Yoshida, Yoshito Koyanagi, Sayaka Kamada, Kumiko Kato, Kaoruko Torii, Akiko Hikoya, Mineo Kondo, Chie Sotozono, Keiko Matsubara, Maki Fukami |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 35 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |