title: Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent.
abstract: Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). JS is an autosomal recessive inherited disorder caused by different mutations, all with a linkage at achromatopsia locus 2 q11 on the metal transporter gene CNNM4. The case report presented here describes JS with distinct phenotypic variations such as situs inversus totalis (SIT) along with additional ophthalmic findings such as keratoconus and ectopia lentis. It is the first case of JS reported from the Indian subcontinent, affecting a male patient of Muslim faith from an area having high fluoride levels in the ground water. A positive history of consanguineous marriage among his family members of past generations was also evident.
authors.affiliation: Senior Resident, Department of Periodontology, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India. Electronic address: Parth_94151@yahoo.com.
authors.forename: Parth
authors.initials: P
authors.lastname: Purwar
authors.affiliation: Postgraduate Student, Department of Periodontology, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: Sagar
authors.initials: S
authors.lastname: Sareen
authors.affiliation: Postgraduate Student, Department of Periodontology, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: Kishlay
authors.initials: K
authors.lastname: Bhartiya
authors.affiliation: Junior Consultant, Udgir Lions Hospital, Udgir, Latur, Maharashtra, India.
authors.forename: Sayyed Rayyan
authors.initials: SR
authors.lastname: Sayed Inayatullah
authors.affiliation: Senior Resident, Department of Radiodiagnosis, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: Mayank
authors.initials: M
authors.lastname: Bansal
authors.affiliation: Postgraduate Student, Department of Ophthalmology, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: Vikas
authors.initials: V
authors.lastname: Chahal
authors.affiliation: Associate Professor, Department of Ophthalmology, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: Sanjiv K
authors.initials: SK
authors.lastname: Gupta
authors.affiliation: Professor and Head, Department of Periodontology, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: Jaya
authors.initials: J
authors.lastname: Dixit
authors.affiliation: Postgraduate Student, Department of Periodontology, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: Vaibhav
authors.initials: V
authors.lastname: Sheel
authors.affiliation: Private Practioner, Varanasi, Uttar Pradesh, India.
authors.forename: Priya
authors.initials: P
authors.lastname: Rai
mesh_terms: D000328:Adult; D000567:Amelogenesis Imperfecta / Q000175:diagnosis* / Q000628:therapy; D000071700:Cone-Rod Dystrophies; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D007640:Keratoconus / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000628:therapy; D012857:Situs Inversus / Q000175:diagnosis* / Q000628:therapy