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Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction.

Pandey, Pramod Kumar; Vats, Pankaj; Kaur, Navjot; Kulkarni, Ajit G.

Indian J Ophthalmol ; 2008 Jul-Aug; 56(4): 343; author reply 343-4

Article in English | IMSEAR | ID: sea-70738

Subject(s)

Blepharophimosis/complications , Cataract/complications , Diagnosis, Differential , Electromyography , Eye Movements/physiology , Humans , Lens, Crystalline/pathology , Ocular Motility Disorders/complications , Retinitis Pigmentosa/complications , Visual Acuity

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Nallathambi, Jeyabalan; Neethirajan, Guruswamy; Usha, Kim; Jitendra, Jethani; De Baere, Elfride; Sundaresan, Periasamy.

J Genet ; 2007 Aug; 86(2): 165-8

Article in English | IMSEAR | ID: sea-114244

Subject(s)

Blepharophimosis/complications , Child, Preschool , DNA Mutational Analysis , Eye Diseases/congenital , Family , Female , Forkhead Transcription Factors/genetics , Humans , India , Infant , Male , Mutation , Pedigree , Syndrome

Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex?

Vedantham, Vasumathy; Jethani, Jitendra; Agarwal, Anil; Vijayalakshmi, Perumalsamy.

Article in English | IMSEAR | ID: sea-72303

ABSTRACT

A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported. Computerized search using Medline did not reveal any such previously reported association.

Subject(s)

Adolescent , Blepharophimosis/complications , Cataract/complications , Diagnosis, Differential , Electromyography , Eye Movements/physiology , Female , Humans , Lens, Crystalline/pathology , Ocular Motility Disorders/complications , Retinitis Pigmentosa/complications , Visual Acuity

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