Author: Damian Garcia-Teillard (Spain)
Co-authors: M Angeles Barranco, Ismael Molina, Antonio Domingo, Camelia Ibnoulkhatib, Javier Lavid De Los Mozos
Describe the main clinical findings of a patient diagnosed with PCA, as well as compare them with the available literature on this condition.
58-year-old female patient studied in our department for recurrent episodes of intermediate uveitis associated with HLAB27 + spondyloarthritis, undergoing rheumatology follow-up with systemic treatment with adalimumab and methotrexate
The patient went to the emergency room reporting decreased visual acuity (VA) in the left eye (LE), associated with photopsies. In consultation, visual acuity (VA) is 0.6 in his right eye and 0.7 in his left. The intraocular pressure is 13mmHg in both eyes (AO). On examination, the fundus reveals mild vitritis and peripheral retinal degeneration in OA, with mobilization of pigment in the periphery and a paravascular area in the arches. In turn, an epiretinal membrane with cystic macular edema (CME) in OA and hyperfluorescence in the paravenous pigment mobilization areas and peripheral vasculitis are evidenced on OCT. With serological tests and a negative systemic study, treatment with Ozurdex is administered in OC, improving VA and resolving the CME.
ACPP is a rare disease characterized by perivenous aggregations of pigment clumps that can be associated with peripapillary and radial areas of retinochoroid atrophy. Patients, usually asymptomatic and the disease process is not progressive or mildly progressive. It is usually bilateral and symmetrical. The cause of the condition may be unknown or idiopathic, although a degenerative, hereditary, or even inflammatory etiology has been hypothesized. PPRCA associated with inflammation is called secondary or pseudo PPRCA and cases associated with idiopathic uveitis or associated with tuberculosis infections or syphilis. Associations with retinitis pigmentosa are suggested in primary disease, without defining whether it is a subtype of it or a condition with similar clinical characteristics. Mixed hereditary transmission patterns are described, both dominant and recessive, associated with X and Y. other associations such describes such as CRB1 gene mutation (described in retinitis pigmentosa and Coats disease). Electrophysiological data are variable and nonspecific, from normal to markedly pathological. In a minority of cases, the macula is affected, appreciating EMQ, ERM, exudates, macular holes, pigmentary alterations and colobomas among other conditions, and it is not known whether it may be the cause of the disease phenotype or be associated with another type of disease.
To date, there are no established diagnostic criteria, but there are a series of pathognomonic signs such as pigment accumulations and patchy retinochoroid atrophy that follows the vascular arches It is a rare disease whose prevalence is estimated less than 1/1000000, raising interest in presenting this case, which we classify as a PCA secondary to episodes of intermediate uveitis with macular involvement that is currently controlled with biological and intravitreal treatment. While the Primary PPRCA is an affectation without treatment that does not usually progress or has a slow progression, it is important to rule out diseases that can produce a pseudo ACPP in which an adequate treatment can improve or preserve ocular function.