A female patient, seen for the first time at the ophthalmology department of our hospital in 1992 (aged 33) due to a decrease in the visual acuity of her right eye. The initial ophthalmological examination showed a visual acuity (VA) of 0.2 in the right eye (RA) and 0.6 in the left eye (LO), with -5.0 and -4.0 spherical dioptres respectively. Biomicroscopic examination of the anterior pole showed a marked posterior embryotoxon and intraocular pressure was 12 mmHg in both eyes. The patient's fundus showed the following features OD: Circumpapillary geographic atrophy of the RPE and choroid with precise boundaries encompassing the entire macular area and allowing visualisation of the underlying choroidal vessels. OI: Diffuse lesions with similar characteristics to those in the OD, with a crescent of atrophy partially affecting the macular area. In this situation, fluorescein angiography (FAG) was performed, showing the atrophy of the RPE and choriocapillaris already described, without clear signs of activity. Given the possibility of serpiginous choroiditis, immunosuppressive treatment was started with corticosteroids and cyclosporine, as well as vitamin supplements for possible nutritional deficiency, but no favourable response was observed. Subsequently, and due to the unfavourable evolution, immunosuppressive treatment with Azathioprine and Methotrexate was reinstated without any sign of improvement.
In 2003, and due to her family history (2 nephews genetically diagnosed with Alagille Syndrome without associated ophthalmological manifestations), a genetic study was performed on the patient, discovering the 2785+3 mutation of AAGT in intron 19 of the Jagged 1 gene and thus confirming the suspicion of Alagille Syndrome.
At present, and after 14 years of follow-up, the patient has a visual acuity of light perception in OD and 0.1 with eccentric fixation in OI. The fundus examination showed the growth of atrophic chorioretinal lesions that completely covered the macular area without showing any evidence of angiographic signs of activity in the periodic check-ups carried out throughout the follow-up in our department.