Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.

BACKGROUND: Ligneous Conjunctivitis (LC) is the most common clinical manifestation of Type I Plasminogen deficiency (T1PD; OMIM# 217090), and it is characterized by the formation of pseudomembranes (due to deposition of fibrin) on the conjunctivae leading to progressive vision loss. In past times, patients with LC were treated with surgery, topical anti-inflammatory, cytostatic agents, and systemic immunosuppressive drugs with limited results (Blood 108:3021-3026, 2006, Ophthalmology 129:955-957, 2022, Surv Ophthalmol 48:369-388, 2003, Blood 131:1301-1310, 2018). The surgery can also trigger the development of membranes, as observed in patients needing ocular prosthesis (Surv Ophthalmol 48:369-388, 2003). Treatment with topical purified plasminogen is used to prevent pseudomembranes formation (Blood 108:3021-3026, 2006, Ophthalmology 129:955-957, 2022). CASE PRESENTATION: We present the case of a sixteen-year-old girl with LC with severe left eye involvement. We reported the clinical conditions of the patient before and after the use of topical plasminogen eye drops and described the treatment schedule allowing the surgical procedure for the pseudomembranes debulking and the subsequent use of ocular prosthesis for aesthetic rehabilitation. CONCLUSIONS: The patient showed a progressive response to the topical plasminogen, with a complete absence of pseudomembrane formation at a twelve-year follow-up, despite using an ocular prosthesis.

Should we care about the ocular surface in the anophthalmic patient?

PURPOSE: To assess clinical and biomolecular changes of the conjunctival epithelium in anophthalmic patients wearing an ocular prosthesis. METHODS: Thirty-five unilateral anophthalmic patients were enrolled. Patients with blepharitis, lid abnormalities, and topical/systemic medication affecting the ocular surface were excluded. Symptom Assessment in Dry Eye (SANDE) questionnaire and tear function test (Schirmer Test Type I) were recorded. Conjunctival inflammation and meibomian gland dysfunction (MGD) were graded in the anophthalmic side and fellow eye. Impression cytology sampling of the upper, lower tarsal, and posterior/bulbar conjunctiva from the anophthalmic socket were collected and compared to healthy controls. RESULTS: Patients had significantly higher SANDE (p < 0.001), Schirmer I test (p = 0.004), conjunctival inflammation (p < 0.001), and MGD scores (p < 0.001) on the anophthalmic side compared to the fellow eye. Mucin 5AC, inflammatory markers (MMP-9, ICAM-1) expression (p < 0.001), and response to oxidative stress (NRF2-KEAP1 signaling pathway) (p < 0.05) were significantly upregulated in the posterior conjunctival surface in the anophthalmic socket. CONCLUSIONS: Anophthalmic patients complained of more pronounced dry eye symptoms and presented more significant signs of inflammation and MGD on the anophthalmic side. The bulbar conjunctiva, behind the prosthesis, showed more significant hyperexpression of mucins, markers of inflammation, and increased response to oxidative stress compared to the tarsal conjunctiva. Patients wearing ocular prosthesis had signs of inflammation resembling dry eye disease.

Long-term outcomes after cosmetic customized prostheses and dermis fat graft in congenital anophthalmia: a retrospective multicentre study.

PURPOSE: To evaluate long-term outcomes of progressively enlarging cosmetic customized prostheses (CCP) early after birth followed by dermis fat graft (DFG), as a strategy of socket rehabilitation in children with clinical congenital anophthalmia (CCA). METHODS: Twenty patients with unilateral and two patients with bilateral CCA were enrolled. All patients were treated by inserting a CCP at the time of their first assessment which was then enlarged. Subsequently they underwent DFG. Differences in vertical palpebral aperture (VPA) and horizontal palpebral length (HPL), between affected and unaffected sides, were recorded at the first CCP fitting as well as before and after DFG. Satisfaction with cosmetic results, prosthetic retention, and complications rate were assessed. Magnetic resonance imaging of the orbit was performed in all patients before and after surgery. RESULTS: A significant decrease in the difference between the normal and the anophthalmic side of both PA and HPL was found over follow-up. Both VPA and HPL differences decreased by 47.6% (10.5 mm, range 1-28 mm) and by 7.1% (5.8 mm, range 0-18 mm), respectively. Satisfaction in terms of cosmetic outcomes proved to be very positive, being "very satisfied" for families and "satisfied" for physicians. Excellent retention of prostheses was observed in all cases. CONCLUSIONS: A rehabilitating strategy combining early CCP and further DFG proved to be a valuable approach in children with CCA, offering significant benefits in terms of socket expansion, prosthetic retention, psychological impact, and cosmetic outcomes.