A retrospective study on adjuvant chemotherapy in retinoblastoma: validation of the new recommendation against treatment for pT2a tumors based on the 8th AJCC classification.

BACKGROUND: Retinoblastoma (RB) is an intraocular malignant tumor detected in early childhood with variable global impact. Histopathological classification of the tumor in enucleated globes with RB is the key for the decision of adjuvant chemotherapy use. We aim to validate the use of adjuvant chemotherapy in cases with combined pre-laminar/intralaminar optic nerve (ON) invasion and focal choroidal invasion according to the American Joint Committee on Cancer (AJCC) 8th classification. METHODS: This is a retrospective study conducted at King Abdulaziz University Hospital (KAUH) and King Khalid Eye Specialist Hospital (KKESH) in Riyadh, Saudi Arabia of all RB cases who underwent enucleation over 22 years (2000 to 2021). The histopathological findings were reviewed to identify the enucleated globes classified as pT2a tumors, as an inclusion criterion. Basic demographic and clinical data were collected via chart review Simple descriptive and basic statistical analysis of the data was used where applicable. RESULTS: Thirty-one patients who had an enucleated globe with RB that fit into the above classification were included. Sixteen were males and 15 were females. The median age was 14 months (IQR = 14 months). Most of the patients (93.5%) had no family history of RB. The commonest presentation was leukocoria in 87.1% followed by squint in 32.3%. Fourteen patients (45.2%) were treated by enucleation alone while 17 patients (54.8%) received adjuvant chemotherapy. Out of these, 7 patients had unilateral RB and the remaining 10 patients had bilateral RB. None of our patients developed recurrence or metastatic disease irrespective of the indication for adjuvant chemotherapy use after a maximum period of follow up reaching 17.84 years and a median of 10.6 years (IQR = 5.92). CONCLUSIONS: In patients with 8th AJCC histopathological classification of pT2a, chemotherapy following enucleation might not be justified. The outcome in our untreated group of patients did not differ from the treated group with the absence of metastasis after a relatively long period of follow up with a median exceeding 10 years in both groups. Therefore, the risk and benefit of post enucleation adjuvant chemotherapy in the treatment of unilateral RB should be carefully decided and discussed with the primary caregivers taking into consideration the most recent evidence and recommendations in the literature.

Clinicopathological Correlations in Enucleated Globes of Late-Stage Coats Disease with a Review of the Literature.

BACKGROUND: Coats disease may cause diagnostic dilemma because of its variable clinical presentation that can be suspicious of retinoblastoma. Late sequelae of the disease are blinding with possible enucleation. We demonstrate the main histopathological findings of Coats enucleated eyes with literature review. METHODS: This was a retrospective study of all enucleated globes diagnosed as Coats disease over 30 years and were reviewed by two pathologists. The corresponding demographic data, clinical presentation, pre-operative clinical impression, and indication for enucleation were collected. Descriptive analysis of our own series data was performed. Our findings were then correlated to published data that were collected from 1983 to 2021 from the PUBMED database in English-written language. Shields classification was used as an inclusion criterion for the published reports to be analyzed. RESULTS: We had seven enucleated globes with Coats disease. Mean age at presentation was 3.2 years (range 3 months to 9 years). Male predominance was observed in 6 and all cases were unilateral. Strabismus was the most common initial presentation (57%, n = 4), followed by leukocoria (43%, n = 3). Indication for enucleation was mostly suspected retinoblastoma (57%, n = 4). Four eyes were classified as stage 4, and 2 had advanced stage 5 changes. Histopathologically, subretinal fluid with lipid-laden macrophages was seen in all cases, the anterior chamber was shallow in 5/7 with angle neovascularization in 2/7. Telangiectatic vessels were clearly observed in 4/7. CONCLUSION: Coats disease is a potentially visually disabling disease that is mostly unilateral in 95%, has male predominance of 81%, and wide age range with a mean of 17 years. In Saudi Arabia, the disease seems to present at younger age, tends to be more advanced, and may be indistinguishable from retinoblastoma at the time of diagnosis. Shields staging of Coats is highly recommended to be followed clinically to unify the pathways for treatment and to correlate the concluded outcomes.

Conjunctival Lesions: A 5-Year Basic Demographic Data and Clinicopathological Review in a Tertiary Eye Care Hospital.

BACKGROUND: Conjunctival lesions are common with a wide spectrum of benign, premalignant, and malignant lesions. Few histopathological studies have been conducted on conjunctival lesions with variable designs and results. Our aim in this study is to provide information on common conjunctival lesions seen in an ophthalmology tertiary care center in Saudi Arabia. METHODS: A retrospective, observational study of all consecutive conjunctival tissue specimens sent for histopathological assessment to the pathology department from 2015 to 2019 were analyzed. Clinical data were collected from medical records, and the histopathological slides were reviewed by a single pathologist. RESULTS: A total of 110 conjunctival specimens from 108 patients were included (mean age: 53 years, 67 males and 43 females). Bilateral involvement was mostly found in inflammatory lesions (40%). Most lesions were benign (91%), with a significantly longer duration of symptoms in malignant lesions (p = 0.036*). The clinical diagnosis matched the final histopathological diagnosis in 75.5% of the total specimens. The most frequent category of benign lesions was fibrodegenerative and proliferative lesions (53.6%), with a significantly higher prevalence among adult males (p < 0.001). Melanocytic lesions were more common in children (33.3%) than adults (9.8%), and the mean age of children was significantly lower (p = 0.013). The most frequent malignant lesion was ocular surface squamous neoplasia (50%), with equal prevalence among males and females. The overall outcome was favorable in 89.4% and unfavorable in 10.6%, mostly due to surgical complications, further progression of the lesion, or recurrence. CONCLUSION: This study shows variability in the frequency of conjunctival lesions based on gender, age, geographical, racial, and environmental factors. There has been a shift in the gender-based prevalence of ocular squamous neoplasia over the last three decades, probably due to a change in lifestyle.

Choroidal hemangioma in Sturge Weber syndrome: Case series with confirmed tissue diagnosis.

INTRODUCTION: Sturge-weber syndrome (SWS) is a rare condition that presents with a typical facial port-wine stain, neurological manifestations such as seizures, and ocular involvement by glaucoma and/or choroidal hemangioma. In this series we demonstrate the histopathological details of the primary ocular involvement as well as the late blinding secondary ocular changes. PRESENTATION OF CASES: Seven cases were included with the diagnosis of choroidal hemangioma in association with SWS (6 enucleations and one evisceration). Male to female ratio was 4:3. Age at enucleation/evisceration ranged from 25 to 68 years with a median of 42 years. Five cases had history of glaucoma (71.4%). Diffuse hemangioma was found in all (4 cavernous and 3 mixed cavernous/capillary type). Conjunctival and episcleral hemangiomas were found in 3/7. Iris neovascularization and retinal detachment were confirmed in 5/7 cases each (71%). DISCUSSION: Our demographic and histopathological findings parallel what was previously concluded in the literature about the lack of gender predilection in SWS, and the most common ocular presentations of glaucoma and choroidal hemangioma, which is mostly diffuse in nature. The hemangioma type was found to be mostly cavernous followed by mixed capillary and cavernous. We demonstrated late associated ocular changes such as cataract, iris neovascularization, exudative retinal detachment, retinal pigment epithelium hyperplasia/metaplasia, and optic nerve atrophy, all of which aid in the poor visual outcome in these patients. CONCLUSION: Sturge-weber syndrome is a rare but visually disabling disease due to the associated ocular manifestations of glaucoma and choroidal hemangioma. Multidisciplinary approach because of the diverse presentation of this condition by pediatrician, neurologist, and ophthalmologist is essential with an attempt to preserve vision.

Juxtapapillary retinal capillary hemangioma: A clinical and histopathological case report.

INTRODUCTION AND IMPORTANCE: Juxtapapillary retinal capillary hemangiomas (RCHs) are vascular hamartomas that occur adjacent to the optic disc. Juxtapapillary RCHs can be found as an isolated finding or in association with Von Hippel-Lindau (VHL) disease. VHL is a dominantly inherited disease that is characterized by multiple intracranial and retinal hemangioblastomas along with benign and malignant visceral tumors. RCH is a hallmark lesion in VHL and typically presents early in the disease. CASE PRESENTATION: We present the clinical and histopathological findings of a 15-month-old child with juxtapapillary RCH associated with exudative retinal detachment and a family history of VHL. The child presented initially at a late stage and lost to follow-up twice then came back with a blind painful eye secondary to neovascular glaucoma necessitating enucleation. DISCUSSION: Although juxtapapillary RCHs are benign, slowly growing tumors, they pose a serious threat to central vision secondary to posterior segment complications such as intraretinal and subretinal exudation, macular edema and exudative retinal detachment and anterior segment complications such neovascular glaucoma if left untreated. CONCLUSION: Juxtapapillary RCHs are potentially blinding tumors if not treated in early stages given their close proximity to the optic nerve (ON) and macula.

Sebaceous Gland Carcinoma with Misleading Clinical Appearance: A Case Report of an Eyelid Lesion.

BACKGROUND Sebaceous gland carcinoma (SGC) is a rare malignant lesion that occurs on the eyelids. It is known to mimic other benign or malignant lesions in clinical presentation, such as a chalazion, basal cell carcinoma, and squamous cell carcinoma. The histopathological diagnosis is the mainstay for diagnosis and is often challenging. CASE REPORT We describe a case of SGC in a 53-year-old woman who presented with a cauliflower-appearing lesion with pearly telangiectatic vessels and raised margins at the lower eyelid margin. Clinically, we suspected a diagnosis of basal cell carcinoma. Upon complete resection of the lesion, the final diagnosis was SGC based on the histopathological features and immunohistochemical staining characteristics of the tissue. CONCLUSIONS Due to the possibility of SGC presenting similarly to other lesions, it is essential for ophthalmologists to have a high index of suspicion in its diagnosis. The early and accurate diagnosis of such lesions is important for appropriate management to prevent metastasis or recurrence related to advanced tumors.

Rathke's cleft cyst presentation mimicking craniopharyngioma: Case report.

INTRODUCTION: Rathke's cleft cysts (RCCs) are benign cystic lesions from the remnant cells of the craniopharyngeal duct within Rathke's pouch. Anticipation of such condition will help planning the treatment course. PRESENTATION OF CASE: We present a case of a 46-year-old male, referred to our tertiary center with a history of seizures, confusion and agitation for the past two weeks. After thorough investigations, he was found to have hyponatremia with low serum cortisol and hypothyroidism. After being sedated, intubated and stabilized, Magnetic Resonance Imaging (MRI) brain showed relatively medium to large sellar lesion which was highly suspicious of a craniopharyngioma (CP). However, after performing an endoscopic transphenoidal surgical resection of the lesion, clinical diagnosis supported RCC. DISCUSSION: The best treatment approach for CP is a complete surgical resection via a transphenoidal approach. Considering the fluid component of RCC, it may be treated with a more conservative surgery and does not necessitate a surgery as invasive as that of CP. CONCLUSION: Given the mixed solid and cystic nature of CPs, it is possible to confuse it with RCC and vice versa. The presented case highlights that Rathke's cyst may be challenging in terms of pre-operative diagnosis, peri-surgical management and histopathological examination.

Acute subconjunctival pigmentation with an underlying ciliary body mass: An unusual case presentation.

Intraocular melanocytoma is a rare slowly growing benign tumor that may occur anywhere along the uveal tract including the ciliary body but is more commonly found near the optic disc. It is darkly pigmented and may exhibit fast growth and possibly malignant transformation. Ciliary body (CB) melanocytoma is rare and often misdiagnosed as a melanoma. We are reporting a case of CB melanocytoma in a 74-year old lady with unusual initial presentation of an acute onset of subconjunctival pigmentation and extra-scleral extension of the melanocytoma with coarse melanin granules. The diagnosis of melanocytoma was confirmed by histopathological examination of the prolapsed tissue and by ultrastructural studies. Literature review of similar cases is also summarized.

Asymmetrical Ocular Manifestations of Nephropathic Cystinosis; A Case Report.

BACKGROUND Infantile nephropathic cystinosis is the most common and severe variant of cystinosis, which is a rare autosomal recessive condition related to a defect in the transportation of the protein cystine resulting in its deposition in various organs. Due to the rarity of this condition, only 1 case with extensive ocular involvement has been found in the English-language literature. Here, we report a second such case to highlight the significance of early diagnosis in avoiding devastating but preventable vision loss. CASE REPORT We describe the extensive asymmetrical ocular involvement in a 22-year-old woman who had nephropathic cystinosis since childhood. Despite frequent follow up and systemic and topical cysteamine therapy, she developed ocular complications, including increased intraocular pressure, uveitis, and retinal changes with complete loss of vision in her left eye. In addition, her general condition requires a renal transplant in the near future. CONCLUSIONS Ophthalmologists should be aware of cystinosis and the sequalae of ocular involvement in this disease, despite its rarity. Identification of the earliest corneal deposits should not be overlooked, especially in the context of other systemic manifestations that are indicative of the nephropathic variant of cystinosis.