Treatment strategies and long-term outcomes in patients with congenital microphthalmia-anophthalmia with cyst.

BACKGROUND/AIMS: Microphthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends retention to stimulate orbital growth during socket rehabilitation but does not illustrate their potential to deform the periocular tissues. This study aims to illustrate the long-term outcomes when other elements, such as forniceal and lid development, are also considered when formulating bespoke treatment plans for patients. METHODS: Retrospective case series of 78 patients attending a single prosthetics clinic between 1988 and 2020. Clinical and surgical notes, radiological imaging, clinical photographs and patient/doctor satisfaction questionnaires were used to report patient outcomes and natural history data. RESULTS: 89 sockets of 78 patients (11 bilateral) were included; average age of presentation being 2.8 years (9 days to 29.5 years). Cysts were clinically detected (48%) or were incidental findings (52%). The mean follow-up time was 7.2 years (6 months to 28 years). Cysts in 46% of sockets underwent surgical excision while the remainder were retained. Satisfaction surveys were obtained for 75 patients, with cosmetic outcomes rated as 'excellent' or 'good' in 90% of cases by physicians and 97% of cases by patients or guardians. CONCLUSION: The favourable long-term outcomes in this study have resulted from bespoke plans which considered periocular tissue development, regional orbital growth and orbital volume replacement. The authors contemplate cyst excision if the prosthetic fitting or retention is impeded by the cyst as this often heralds the increased risk of long-term periocular distortion.

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.

Spectral-domain optical coherence tomography in Irvine-Gass syndrome.

PURPOSE: To report longitudinal evaluation of morphology and function, by spectral-domain optical coherence tomography and Early Treatment Diabetic Retinopathy Study visual acuity, respectively, in patients with cystoid macular edema after cataract surgery (Irvine-Gass syndrome). METHODS: Fifteen eyes (15 patients) with a diagnosis of cystoid macular edema related to Irvine-Gass syndrome underwent ocular ophthalmologic examinations including Early Treatment Diabetic Retinopathy Study visual acuity and macular morphology assessment by spectral-domain optical coherence tomography. An observational period of 3 months after surgery was considered before starting therapy with oral acetazolamide and topical indomethacin. Patients' eyes were tested at baseline and at 3, 6, and 12 months posttreatment by spectral-domain optical coherence tomography and Early Treatment Diabetic Retinopathy Study visual acuity. Repeated measures analysis of variance was used to compare mean values. RESULTS: Mean (±SD) central macular thickness by spectral-domain optical coherence tomography was 530 (±98.1), 385.6 (±55.1), 339 (±32.3), and 316.2 (±27.0) µm at baseline, 3, 6, and 12 months of follow-up, respectively (P < 0.001). Mean (±SD) Early Treatment Diabetic Retinopathy Study visual acuity was 0.6 (±0.2), 0.2 (±0.1), 0.16 (±0.1), and 0.09 (±0.07) logarithm of the minimum angle of resolution at baseline, 3, 6, and 12-month follow-up, respectively (P < 0.001). Macular thickness changes were positively correlated (r = 0.75; P < 0.001) with visual acuity changes. Eyes with interruption of inner segment/outer segment junction at baseline (n = 3, 20%) showed a persistent damage of the photoreceptor junction and incomplete visual acuity recovery at the end of follow-up. CONCLUSION: Spectral-domain optical coherence tomography detects retinal findings, including photoreceptor inner segment/outer segment junction abnormalities that are correlated with visual acuity changes in treated patients with Irvine-Gass syndrome.