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Additionally, color fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of the macula, full field electroretinogram (ffERG) were obtained. Orthopantomogram (OPG) were also obtained. NGS-based gene panel testing was done in a commercial laboratory from a peripheral blood sample.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Fundus examination demonstrated typical features of CORD in the form of loss of foveal reflexes with macular retinal pigment epithelial mottling and atrophy reminiscent of bull\u2019s eye maculopathy. Dental assessment revealed evidence of AI. NGS-based gene panel identified a novel mutation in <jats:italic>CNMM4<\/jats:italic> gene c.1423 G&gt;A consistent with a diagnosis JS, thereby confirming the rare diagnosis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>To the best of our knowledge, this is the first report of Jalili syndrome in Egypt. We are reporting a novel mutation in <jats:italic>CNMM4<\/jats:italic> gene. We are also expanding the clinical spectrum of dental manifestation by reporting early eruption of the first permanent molars and suggesting that hyperopia could be a rather constant feature of JS. This case emphasizes the importance of comprehensive multidisciplinary assessment beyond visual complaints in IRD patients in order to reach an accurate diagnosis.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s10633-025-10018-1","type":"journal-article","created":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T14:55:15Z","timestamp":1744728915000},"page":"189-196","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt"],"prefix":"10.1007","volume":"150","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5856-2135","authenticated-orcid":false,"given":"Caroline Atef","family":"Tawfik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haneen Sabry","family":"Aly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Menna","family":"Kabeel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iman","family":"Yousri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara Abdallah","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,4,15]]},"reference":[{"issue":"11","key":"10018_CR1","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1136\/jmg.25.11.738","volume":"25","author":"IK Jalili","year":"1988","unstructured":"Jalili IK, Smith NJD (1988) A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. 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