№ files_lp_4_process_3_111257
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Case report describing a 25-year-old pregnant woman with genetically confirmed CDHR1-associated retinitis pigmentosa, documenting accelerated visual decline during pregnancy and detailed clinical, imaging, and genetic findings.
Year: 2025
Location: Jerusalem, Palestine
Topic: Ophthalmology, Genetic Retinal Disorders
Document Type: Case Report
Institution: St. John of Jerusalem Eye Hospital Group
Authors: Salam Iriqat, Rawan Ayyad, Yahya Alswaiti
Target Audience: Ophthalmologists, Geneticists
Patient Age: 25
Patient Sex: Female
Genetic Finding: Homozygous nonsense mutation in CDHR1 c.1632C>A, p.(Tyr544*)
Clinical Features: Progressive nyctalopia, peripheral vision loss, macular atrophy, pale optic discs, color vision deficiency
Pregnancy Status: First trimester onset of symptoms, deterioration continued postpartum
Diagnostic Methods: Fundus examination, Optical Coherence Tomography, Full-field Electroretinography, Genetic Testing
Consanguinity: Parents are first cousins
Ethics: Written informed consent obtained
Funding: None
Conflicts of Interest: None reported
References: Included in the text
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