Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome.

OBJECTIVE: We examined the incidence and natural history of macular retinochoroidal neovascularization (RCN) in enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. METHODS: This single-center study included 14 of 93 patients with ESCS who had signs of active or inactive RCN in ≥1 eye. We conducted multimodal retinal imaging, full-field electroretinography, and molecular genetic analysis of NR2E3 gene. Our main outcome measures included the cumulative incidence of RCN in ESCS, type of RCN, and mode of evolution of RCN. RESULTS: Fourteen (15.1%) of 93 patients with ESCS had RCN in ≥1 eye at 2 to 27 years of age. All 22 RCNs (21 eyes of 14 patients) were macular. Twelve of the RCNs were active with exudates/hemorrhages. Of these, 5 appeared de novo in a subretinal location, with photographic evidence of no pre-existing lesions. The latter were compatible with type 3 neovascularization or retinal angiomatous proliferation and subsequently evolved into unifocal fibrotic nodules. The remaining active lesions all had some degree of pre-existing fibrosis and remained stable. Ten inactive fibrotic nodules, identical to end-stage de novo lesions, were found and were presumed to represent healed RCNs. CONCLUSIONS: RCN, a treatable condition, may occur as early as 2 years of age and may be much more common in patients with ESCS than previously estimated. It may be the primary cause of the unifocal submacular fibrosis that is commonly observed in this condition. Additional research is needed to establish the pathogenesis of RCN in patients with ESCS and its optimal management.

Incidence, Risk Factors and Surgical Outcomes of Cataract among Patients with Vogt-Koyanagi-Harada Disease.

Purpose: To investigate risk factors and surgical outcomes of cataract in Vogt-Koyanagi-Harada (VKH) disease.Methods: Review of 187 patients (374 eyes).Results: At presentation, cataract was diagnosed in 56 (14.9%) eyes all had chronic recurrent VKH. During follow-up, cataract developed in additional 51 (13.6%) eyes. Fifteen (13.6%) of these had initial-onset acute VKH with anterior segment (AS) inflammation and 36 (19.4%) had chronic recurrent VKH. No patient with initial-onset acute VKH without AS inflammation developed cataract. Risk factors for cataract development during follow-up included female gender, keratic precipitates, anterior chamber reaction ≥2+, chronic recurrent VKH, posterior synechiae, iris nodules, glaucoma, glaucoma surgery, choroidal neovascular membrane, "sunset glow fundus" and chorioretinal atrophy. Thirty-two eyes underwent cataract extraction. Fourteen (43.8%) eyes achieved ≥20/40. Posterior segment complications of chronic recurrent VKH accounted for <20/40 outcome.Conclusions: Poor outcome after surgery is secondary to posterior segment complications of chronic recurrent VKH.

Adult Orbital Lesions in Saudi Arabia: A Multi-centered Demographic Study with Clinicopathological Correlation.

The demographics, clinical features, and histopathological classification of orbital space-occupying lesions in adults have not been widely described in our part of the world except for the pediatric population. In this retrospective study, we collected 110 consecutive adult patients (18 years and older) with orbital lesions (excluding lacrimal gland lesions) that were diagnosed histopathologically in two tertiary eye centers in Riyadh, Saudi Arabia (January 2000 to July 2017). Patients with thyroid-related orbitopathy, infectious, and inflammatory/pseudo-inflammatory lesions were excluded. We had 60 males (54.5%) and 50 females (45.5%). The mean age at presentation was 51.4 years (range 19-99). Proptosis was the most common clinical presentation (mean duration 15.4 months). The orbital lesions in order of increasing prevalence were: lymphoproliferative lesions in 26.4%; vascular in 21.8%; secondary tumors in 14.6%; neurogenic in 13.6%; structural in 10.0%; soft tissue tumors 8.2%; then metastatic tumors (2.7%) and others (extramedullary leukemia, fibrous dysplasia, and histiocytic lesion: Rosai-Dorfman disease): one case each. Gender distribution was varied in lymphoproliferative disorders compared to vascular lesions. Cavernous hemangioma was the most common vascular lesion (83.3%) and schwannoma was the most common neurogenic tumor (60%). Secondary lesions extended to the orbit mostly from eyelids in nine out of 16 or conjunctiva in four out of 16 cases. A favorable outcome was observed in about 80% of patients who underwent excisional biopsy. The rest encountered local recurrence of the tumors, growing of residual lesions, and recurrence with further invasion to nearby structures. We concluded having a similar demographic pattern of orbital lesions in adults as has been universally reported. We have fewer secondary tumors. We have summarized the pathological profile of adult orbital lesions according to patients' age, gender, symptoms, and location of the lesion as a baseline guide for proper diagnosis of any orbital mass prior to surgical management planning and for future prognostic studies.

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.

BACKGROUND: Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, and NOTCH1 genes have been associated with AOS. PURPOSE: To report a novel homozygous variant in the DOCK6 gene associated with Adams-Oliver syndrome type 2. MATERIALS AND METHODS: Case report. RESULTS: We report a case of a 4-month-old male who presented with microcephaly, global developmental delay, truncal hypotonia, and limb reduction defects. Ophthalmic examination revealed bilateral nystagmus and retinal detachment with mild cataractous changes in addition to retrolental plaque in the left eye. Next generation sequencing analysis identified a novel homozygous frameshift likely pathogenic variant (c.1269_1285dup (p.Arg429Glnfs*32)) in the DOCK6 gene. The constellation of the clinical findings and the genetic mutation were consistent with a diagnosis of AOS type 2. CONCLUSION: The discovery of this new likely pathogenic variant enriches the genotypic spectrum of DOCK6 gene and contributes to genetic diagnosis and counseling of families with AOS. Neurologic and ocular findings appear to be consistent with AOS type 2 for which multidisciplinary clinical evaluation is crucial.

Orbital solitary fibrous tumors: a multi-centered histopathological and immunohistochemical analysis with radiological description.

BACKGROUND: Solitary fibrous tumors (SFT), formerly called hemangiopericytoma, are rare tumors derived from mesenchymal cells originally described in the pleura, but these tumors may affect extraserosal tissues including the lacrimal gland and orbit. OBJECTIVE: Conduct a multi-centered clinical, radiological and histopathological analysis of 17 orbital SFT cases. DESIGN: A retrospective case series. SETTING: Three eye centers in two countries. PATIENTS AND METHODS: The data collected from the charts of 17 adult patients presenting with tissue diagnosis of orbital hemangiopericytoma or SFT from January 2003 to December 2018 included demographics, clinical imaging and histopathological information including immunohistochemical (IHC) characteristics. MAIN OUTCOME MEASURES: The demographic characteristics, clinical presentation, and histopathological patterns or variants of SFT were analyzed. SAMPLE SIZE: 17 adult patients. RESULTS: Mean age was 45 years (range 23-80 years). Male to female ratio was 3:1. The right eye was affected in 12 (70.5%) patients. Commonest presentation was proptosis in 13/17 (76% of patients). Other symptoms were impaired motility (29%) and ptosis (11%). Lesions mostly affected the medial orbit (35%), then orbital apex in 11%. The histopathological classic pattern-less variant was the commonest. One case with aggressive behavior, multiple recurrences and atypical features was encountered. Immunohistochemical (IHC) markers used included CD34 expression in all cases, Bcl-2 expression in 10/11, CD99 in 9/9 and Vimentin in 4/4. STAT6 was used in 2 cases. CONCLUSIONS: SFTs are rare tumors affecting the orbit in both genders equally in their mid-forties, but showed male predominance in our analysis with a predominant classic histopathological pattern. Tissue diagnosis is essential and requires IHC studies for confirmation. LIMITATIONS: Sample size is relatively small owing to the rarity of this tumor in the orbit. CONFLICT OF INTEREST: None.

Acute dacryocystitis complicated by orbital cellulitis and loss of vision: A case report and review of the literature.

INTRODUCTION: Acute dacryocystitis usually presents as a pre-septal cellulitis since the lacrimal sac lies anterior to the orbital septum. Orbital cellulitis secondary to acute dacryocystitis is very rare due to a variety of anatomic barriers to the orbit but can occur and result in abscess formation with risk of visual compromise. PRESENTATION OF CASE: We describe a case of otherwise healthy adult who presented with complete visual loss following orbital cellulitis and abscess formation secondary to acute dacryocystitis. The clinical, radiological, intraoperative and postoperative findings are discussed. DISCUSSION: Typically, orbital cellulitis responds well to systemic antibiotic and surgical drainage without permanent visual loss. There are 7 cases reported in the literature of acute dacryocystitis complicated by permanent visual loss. CONCLUSION: Patients with acute dacryocystitis need to be carefully monitored for signs of orbital cellulitis. Prompt recognition and appropriate treatment of this condition are essential.