RESUMO
BACKGROUND/AIMS: The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) syndromes are rare autosomal dominant diseases caused by heterozygous mutations in the p63 gene. Patients are characterized by abnormalities of the skin, teeth, and hair and have limb defects, orofacial clefting and ectodermal dysplasia. In addition, they often show ocular surface alterations, leading to progressive corneal clouding and eventually blindness. Here, we present 8 cases describing patients affected by EEC (n = 6, with 5 sporadic and 1 familial cases) and AEC (n = 2, both sporadic cases) syndromes. We attempt to provide a description of the ocular disease progression over the years. METHODS: Clinical examinations and monitoring of ocular parameters for the assessment of limbal stem cell deficiency were constantly performed on patients between 2009 and 2023. Quantitative data and comparison with existing cases described in the literature are reported. RESULTS: The therapies supplied to patients were essential for the management of the symptoms, but unfortunately did not halt the progression of the pathology. CONCLUSIONS: A constant monitoring of the patients would help avoid the sudden worsening of symptoms. If the progression of the disease slows down, it would allow for the development of newer therapeutic strategies aimed at correcting the genetic defect.
RESUMO
Objective: Our paper aims to report an unusual case of phacogenic uveitis with secondary glaucoma occurring after spontaneous rupture of the lens capsule in a patient with hypermature age-related cataract, to describe its particularities and to review the classification of the lens-induced uveitis. Methods: We described the case of an 83-year-old male with a history of hypermature cataract, who presented to our clinic for right eye pain. Examination revealed circumciliary congestion, diffuse corneal edema, lens debris floating in the anterior chamber, pseudohypopyon and the opacification of the whole lens. An elevated intraocular pressure was also associated. We did not observe any history of previous intraocular surgery or trauma. Results: We diagnosed the case as a phacogenic uveitis with secondary glaucoma and we planned to remove the inflammation trigger, namely the lens and its fragments by the most adequate technique, in order to control the inflammation and the IOP spikes, to alleviate the pain and to improve the patient's visual function and the quality of life. Conclusions: Phacogenic uveitis may present a cloudy cornea and a turbid anterior chamber that mimics endophthalmitis. Careful examination, medical history and ancillary investigations are helpful in establishing an accurate diagnosis and the appropriate treatment can reduce or eliminate the inflammation completely, decrease the intraocular pressure, being able to allow, depending on the particularities of the case, the visual gain.