A female patient was seen for the first time in our hospital's radiology service in 1992 (at 33 years old) due to decreased visual acuity of her right eye.
Initial exploration revealed a visual acuity (VA) of 0.2 in right eye (OD) and 0.6 in left eye (LE), with -5.0 and -4.0 spherical diopters, respectively.
Biomicroscopic examination of the anterior pole revealed a marked posterior embryotoxon and intraocular pressure was 12 mmHg in both eyes.
The eye fundus of the patient showed the following features RE: circumpapillary geographic atrophy of the RPE and choroids with precise limits covering the entire macular area and allows viewing the underlying choroidal vessels.
OI: diffuse sclerotic lesions with characteristics similar to those of the right eye, with a semiluna semiluna affecting partially the macular area.
This situation was confirmed by fluorescein angiography (FFA) which showed the presence of PRS and choriocapilari, as described, without clear signs of activity.
The possibility of a serpiginous choroiditis was initiated with corticoids and cyclolosporin treatment, in addition to a favorable response to radiation supplements due to a possible nutritional deficit.
Subsequently, due to the unfavorable evolution, treatment with Azathioprine and Methotrexate was restarted without any signs of improvement.
In 2003, due to her family history (2 nephews genetically diagnosed with Alagille Ja syndrome without associated manifestations), a genetic study was performed to the patient, revealing the mutation 2785+gg3 of the AAGT gene.
Currently, after 14 years of follow-up, the patient has a visual acuity of light perception in the RE and 0.1 with eccentric fixation in the LE.
In the eye fundus, the growth of chorioretinal atrophic lesions that completely cover the macular area was observed, without showing any evidence of angiographic signs of activity in the periodic follow-up performed in our service.
