| Presentation preference | Oral presentation |
| Title | Distinct ocular and systemic features of cadherin mutation in a young woman |
| Purpose | To report a distinct ocular and systemic features of cadherin mutation in a young woman |
| Methods | Case report |
| Results | A 38-year-old Indian female who complained of decreased vision, significant blurriness and burning sensation in her left eye (OS) for 12 days. As her relevant ocular history, she was diagnosed of cone-rod dystrophy (homozygous CDHR1). She has hypothyroidism and endometriosis. Her relevant family history was that her parents are related. Vision was counting fingers in her right eye and 20/200 in her OS. The slit lamp examination of the OS showed mutton fat keratic precipitates, 3+ cell in the anterior chamber, anterior and posterior synechiaes and mid peripheral nodules. Fundus examination showed clear vitreous, central atrophy without edema, attenuated vessels and granular pigment mottling, bone spicules in the periphery in both eyes. For the acute anterior granulomatous uveitis, prednisolone acetate was initiated every 2 hours and cyclopentolate twice a day and we ordered a complete workup. The blood work was normal and the infectious work-up was negative. The chest-X-ray showed mediastinal and hilar lymphadenopathy. Chest computed tomography was done and it showed diffuse bilateral small pulmonary nodules with asymmetric involvement of the upper lobes with associated thoracic lymphadenopathy. Lung transbronchial biopsy was performed and revealed non-necrotizing granulomas, compatible with the diagnosis of Sarcoidosis |
| Conclusion | This is the first case that shows the potential correlation related to cadherin mutation expressed in several organs such as the eye, lung, and ovaries. To the best of our knowledge, the spectrum of one disease due to the mutation of CDHR1 gene has not been reported yet |
| Conflict of interest | No |
Authors 1
| Last name | SENDINO TENORIO |
| Initials of first name(s) | I |
| Department | Department of Ophthalmology, Hospital Universitario de León, Spain |
| City | León |
| Country | Spain |
Authors 2
| Last name | Khojasteh |
| Initials of first name(s) | H |
| Department | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| City | Palo Alto |
| Country | United States |
Authors 3
| Last name | Yasar |
| Initials of first name(s) | C |
| Department | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| City | Palo Alto |
| Country | United States |
Authors 4
| Last name | Akhavanrezayat |
| Initials of first name(s) | A |
| Department | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| City | Palo Alto |
| Country | United States |
Authors 5
| Last name | Than |
| Initials of first name(s) | N |
| Department | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| City | Palo Alto |
| Country | United States |
Authors 6
| Last name | Tran |
| Initials of first name(s) | A |
| Department | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| City | Palo Alto |
| Country | United States |
Authors 7
| Last name | Yavari |
| Initials of first name(s) | N |
| Department | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| City | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| Country | United States |
Authors 8
| Last name | Karaca |
| Initials of first name(s) | I |
| Department | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| City | Palo Alto |
| Country | United States |
Authors 9
| Last name | Dong Nguyen |
| Initials of first name(s) | Q |
| Department | Spencer Center for Vision Research, Byers Eye Institute, Stanford University |
| City | Palo Alto |
| Country | United States |
