Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2.

Neurofibromatosis type 2 (NF‑2) is characterized by multifocal proliferation of neural crest‑derived cells. The characteristics finding of NF‑2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. A 9 year‑old‑male child presented with left eye decreased vision for 3 months. Visual acuity was 0.0 and 0.8 LogMAR in the right and left eye, respectively. Left fundus showed an elevated, pigmented lesion with surface wrinkling and vascular tortuosity suggestive of CHRRPE with multiple presumed retinal astrocytic proliferations in mid‑periphery. He had multiple café‑au‑lait spots. Optical coherence tomography confirmed clinical findings. Magnetic resonance imaging brain showed bilateral acoustic neuroma. Recognition of this rare finding as presenting feature of NF‑2 can lead to earlier diagnosis which is vital to appropriate surveillance and possible surgical intervention. It is recommended that children with CHRRPE be screened for NF‑2.

Coats’ disease of adult‑onset in 48 eyes.

Background: Coats’ disease diagnosed in adulthood is an idiopathic, retinal exudative vascular disease without an inciting factor and has retinal features different from the childhood disease. Aim: To describe clinical features, treatment, and outcomes of eyes with Coats’ disease first diagnosed in patients 35 years or older. Materials and Methods: Retrospective chart review of patients first diagnosed with Coats’ disease at the age of 35 years or more at a tertiary eye care center between January 1995 and 2012. Eyes with retinal exudation or Coats’‑like response from secondary causes were excluded. Results: Forty‑five of 646 patients (7%) diagnosed with Coats’ disease had adult‑onset disease. Mean age at presentation was 47 years. Systemic hypertension was the most common (22%) systemic association and decreased vision the predominant presenting feature (83%). Localized (<6 clock h) presentation (74%) was unique to adults as against diffuse involvement (69%) in children (P < 0.001). Eyes were treated with laser photocoagulation 29 (60%), cryotherapy (4%), or both (2%) with surgical intervention in three (6%) eyes. Following treatment eight (35%) eyes improved, 11 (48%) eyes were stable while four (12%) eyes worsened due to complications. Conclusion: Adult‑onset Coats’ disease has less extensive involvement, more benign natural course, and a more favorable treatment outcome as against the childhood‑onset disease. The bilateral presentation emphasizes the need for regular follow‑up to detect possible future involvement of the fellow eye.

Biopsy techniques for intraocular tumors.

Biopsy involves the surgical removal of a tissue specimen for histopathologic evaluation. Most intraocular tumors are reliably diagnosed based on the clinical evaluation or with noninvasive diagnostic techniques. However, accurately diagnosing a small percentage of tumors can be challenging. A tissue biopsy is thus needed to establish a definitive diagnosis and plan the requisite treatment. From fine‑needle aspiration biopsy (FNAB) to surgical excision, all tissue collection techniques have been studied in the literature. Each technique has its indications and limitations. FNAB has been reported to provide for 88–95% reliable and safe ophthalmic tumor diagnosis and has gained popularity for prognostic purposes and providing eye conserving treatment surgeries. The technique and instrumentation for biopsy vary depending upon the tissue involved (retina, choroid, subretinal space, vitreous, and aqueous), suspected diagnosis, size, location, associated retinal detachment, and clarity of the media. The cytopathologist confers a very important role in diagnosis and their assistance plays a key role in managing and planning the treatment for malignancies.

Prenatal genetic diagnosis of retinoblastoma – clinical correlates on follow‑up.

Retinoblastoma is the most common malignant intraocular tumor in pediatric age group if undetected leads to ocular mortality. Prenatal diagnosis is an emerging technology to detect fatal diseases in utero such that subsequent management is planned to reduce the ocular morbidity. We describe a case demonstrating the importance of prenatal diagnosis in a child with a strong family history of retinoblastoma and importance of a long‑term clinical follow‑up in these cases.

Sympathetic ophthalmitis following vitreoretinal surgery: Does antecedent trauma make a difference.

Background: Sympathetic ophthalmitis (SO) has been reported following vitrectomy; however, there is a lack of data on the role of antecedent penetrating ocular trauma impacting the disease manifestation in eyes developing SO following vitrectomy. Aim: To report differences in the presentation and outcomes of SO in eyes with or without a history of antecedent penetrating trauma; SO being diagnosed after vitreoretinal (VR) surgery. Design: Comparative case series. Methods: Seventeen consecutive patients presenting with SO following VR surgery, diagnosed between 1995 and 2011 were included. Eyes with and without prior penetrating injury were included in Group I (n = 7) and Group II (n = 10), respectively. All Group I patients had received systemic steroids prior to presentation. Demographic and clinical parameters were evaluated. Results: Differences were observed between Group I and Group II mainly with regards to time interval between VR surgery and diagnosis of SO (1.5 months vs. 8 months, P = 0.10), presence of neurosensory detachments (100% vs. 30%, P = 0.01), and the inciting eye vision at presentation (nil light perception in 28.5% vs. 80%, P = 0.049). Other differences observed though not statistically significant were optic disc and retinal vessel involvement (42% vs. 70%, P = 0.28), Dalen‑Fuchs nodules (localized vs. diffuse) and leaks on fundus fluorescein angiography (pin‑head vs. pin‑point leak). Conclusion: SO in patients with antecedent penetrating ocular trauma present early with the central serous chorioretinopathy‑like picture. Prior use of systemic steroids might have a bearing on the differences in presentation and the visual acuities between the two groups.

Giant nevus of Ota.

Nevus of Ota is a hamartoma of dermal melanocytes presenting as blue hyperpigmented patches on the face usually within the distribution of ophthalmic and maxillary branches of the trigeminal nerve.[1] A case of giant nevus of Ota involving all three branches of the trigeminal nerve is presented.

Mucoepidermoid carcinoma of the conjunctiva with lung metastasis.

A 36‑year‑old lady presented with redness and decreased vision in right eye since 6 months. She was earlier diagnosed of cavitary lung lesion, presumed secondary to tuberculosis and treated with anti‑tubercular treatment for 4 months. Examination of affected right eye revealed nil light perception, conjunctival congestion with an exuberant mass in the inferotemporal bulbar conjunctiva, proptosis, iris neovascularization, 360° closed angles, intraocular pressure of 48 mm Hg, exudative retinal detachment, uveal mass and orbital extension. A diagnostic needle biopsy of uveal mass revealed malignant cells. Computed tomography‑guided lung biopsy revealed squamous cell carcinoma (SCC), indicating metastatic spread from the orbit. She underwent lid‑sparing exenteration of the right eye. Histopathological examination of the orbital tissue revealed mucoepidermoid carcinoma arising from the conjunctiva with extensive invasion into the orbital tissue, muscle fibers, sclera, choroid and optic nerve. Multiple tumor emboli were seen in the lumen of orbital blood vessels. In conclusion, mucoepidermoid carcinoma of the conjunctiva is a rare, aggressive variant of SCC. Early intervention is essential to prevent intraocular invasion and systemic metastasis.

Intra‑arterial chemotherapy for retinoblastoma: First Indian report.

Aim: To describe treatment outcomes and complications of selective intra‑arterial chemotherapy (IAC) for retinoblastoma (RB) in Indian eyes. Materials and Methods: Single center, retrospective interventional case series of 6 eyes with RB who underwent IAC using Melphalan (3 mg/5 mg/7.5 mg) and topetecan (1 mg) (n = 4) or melphalan (3 mg/5 mg/7.5 mg) alone (n = 2) between December 2013 and June 2014. In all, 17 IAC procedures were performed using selective ophthalmic artery cannulation. Treatment outcomes were evaluated in terms of tumor control, vitreous and subretinal seeds control and globe salvage rates. Results: IAC was employed as primary (n = 1) or secondary (n = 5) modality of treatment. Each eye received mean 3 IAC sessions (median: 3; range: 1–4 sessions). Eyes were classified according to international classification of RB as Group B (n = 1), C (n = 1), D (n = 2) and E (n = 2). Following IAC, complete regression of the main tumor was seen in 3 cases (50%), partial regression in 2 (33%), while 1 case (15%) showed no response. Of 4 eyes with subretinal seeds, 1 (25%) eye had complete regression while 3 (75%) eyes had partial regression. Of 5 eyes with vitreous seeds, 2 (40%) eyes had complete regression while 3 (60%) eyes had a partial response. Globe salvage was achieved in 5 of 6 eyes (83%). Diffuse choroidal atrophy and vitreous hemorrhage were observed in 1 (17%) eye, each. No hematologic toxicity or cerebro‑vascular events were observed. Mean follow‑up period was 5.5 months (median: 6 months, range: 1–6 months). Conclusion: IAC is an effective therapy for globe preservation in eyes with RB. Larger studies with longer follow‑up are required to validate these results.

Using risk factors for detection and prognostication of uveal melanoma.

The early detection of malignancy, particularly uveal melanoma, is crucial in protecting visual acuity, salvaging the eye, and preventing metastasis. Risk factors for early detection of uveal melanoma have been clearly delineated in the literature and allow identification of melanoma when it is tiny and simulates a nevus. These factors include thickness >2 mm, presence of subretinal fluid (SRF), symptoms, the orange pigment, margin near optic disc, acoustic hollowness, surrounding halo, and absence of drusen. The importance of early detection is realized when one considers melanoma thickness, as each millimeter increase in melanoma thickness imparts 5% increased risk for metastatic disease. Newer imaging modalities like enhanced depth imaging optical coherence tomography and fundus autoflouroscence facilitate in detection of SRF and orange pigment. Additional molecular biomarkers and cytological features have been identified which can predict the clinical behavior of a small melanocytic lesion. Features that suggest a poor prognosis include higher blood levels of tyrosinase m‑RNA, vascular endothelial growth factor, insulin‑like growth factor; monosomy 3 and gains in chromosome 8. Management of uveal melanoma includes enucleation (for large), local eye wall resection, brachytherapy, charged particle irradiation, and thermotherapy (for small to medium tumors). Although the role of a good clinical evaluation cannot be underestimated, it is advisable to evaluate the various radiological, molecular, and cytological features, to enhance the accuracy of early diagnosis and improved prognosis.

Systemic lupus erythematosus retinopathy in a 32-year-old female: Report of a case.

Systemic lupus erythematosus (SLE) is rare in India with a prevalence of 3 in 100,000.[1] SLE retinopathy is second most common ocular manifestation after keratoconjunctivitis sicca and a major vision‑threatening complication of SLE with an incidence of upto 29% in patients with systemic active disease.[2] We present this photo essay to illustrate the classic features of SLE retinopathy and the co‑ordinated role of Ophthalmologist (including sub‑specialties) with Physicians (Rheumatologist and/or Dermatologist) in managing these multi‑system and multi‑organ autoimmune disorders.

Conjunctival intraepithelial neoplasia with corneal furrow degeneration.

A 68-year-old man presented with redness of left eye since six months. Examination revealed bilateral corneal furrow degeneration. Left eye lesion was suggestive of conjunctival squamous cell carcinoma, encroaching on to cornea. Anterior segment optical coherence tomography (AS-OCT) confirmed peripheral corneal thinning. Fluorescein angiography confirmed intrinsic vascularity of lesion. Patient was managed with “no touch” surgical excision, dry keratectomy without alcohol, cryotherapy, and primary closure. Pathologic examination of removed tissue confirmed clinical diagnosis. Management of this particular case required modification of standard treatment protocol. Unlike the alcohol-assisted technique of tumor dissection described, ethyl alcohol was not used for risk of corneal perforation due to underlying peripheral corneal thinning. Likewise, topical steroids were withheld in the post-operative period. Three weeks postoperatively, left eye was healing well. Hence, per-operative usage of absolute alcohol and post-operative use of topical steroids may be best avoided in such eyes.