Rare Diseases

Current bibliography for experts

"Retina" search results...

FABRY

Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease

2025-04-17

Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.

CLN2

Visual perception and macular integrity in non-classical CLN2 disease

2022-11-01

The aim of the study was to provide longitudinal ophthalmic data of CLN2 patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span.

Α-MANNOSIDOSIS

Retinal and optic nerve degeneration in α-mannosidosis

2018-06-01

Optical coherence tomography (OCT) technology helps detecting early outer retinal thinning which can progress with age and potentially leads to vision loss over time.

News and Events

2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases 2026

The 2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases (FEMETS) will be held on October 23–24, 2026.

European Conference on Human Genetics 2027

The annual ESHG 2027, European Conference on Human Genetics, will be held in Rotterdam, Netherland between 12-15 June 20...

I-PAS Academy 2026

İ-PAS Academy 2026 will be held between October 1–4, 2026, at the Hilton Dalaman Sarıgerme Resort & Spa.

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...