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BACKGROUND: Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defect, high myopia, and vitreo-retinal degeneration. Although genetic heterogeneity has been suspected, COL18A1 is the only known KS disease gene to date. OBJECTIVE: To identify a novel genetic cause of KS in a cohort of Saudi KS patients enrolled in this study. METHODS: When COL18A1 mutation was excluded, autozygosity mapping was combined with exome sequencing. RESULTS: In one patient with first cousin parents, COL18A1 was excluded by both linkage and direct sequencing. By filtering variants generated on exome sequencing using runs of autozygosity in this simplex case, the study identified ADAMTS18 as the only gene carrying a homozygous protein altering mutation. It was also shown that Adamts18 is expressed in the lens and retina in the developing murine eye. CONCLUSION: The power of combining exome and autozygome analysis in the study of genetics of autosomal recessive disorders, even in simplex cases, has been demonstrated.
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Proteínas ADAM/genética , Encefalocele/genética , Mutación , Desprendimiento de Retina/congénito , Proteínas ADAM/metabolismo , Proteínas ADAMTS , Animales , Secuencia de Bases , Consanguinidad , Embrión de Mamíferos/metabolismo , Encefalocele/metabolismo , Encefalocele/patología , Exoma , Femenino , Heterogeneidad Genética , Humanos , Cristalino/metabolismo , Masculino , Ratones , Datos de Secuencia Molecular , Linaje , Fenotipo , Retina/metabolismo , Degeneración Retiniana , Desprendimiento de Retina/genética , Desprendimiento de Retina/metabolismo , Desprendimiento de Retina/patologíaRESUMEN
OBJECTIVE: The aim of this study was to analyze the antibiotic resistance in ocular samples over a 16-year period. METHODS: This was a retrospective cohort study conducted at King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia (2003-2019). The study included corneal and conjunctival swabs and aqueous and vitreous samples. RESULTS: Coagulase-negative staphylococci exhibited a significant trend of increasing resistance over time to erythromycin (p < 0.001), oxacillin (p < 0.001), fusidic acid (p < 0.001), and moxifloxacin (pâ¯=â¯0.003). Staphylococcus aureus also showed a significant increase in oxacillin (pâ¯=â¯0.001), ofloxacin (pâ¯=â¯0.003), and moxifloxacin (pâ¯=â¯0.001) resistance patterns. Streptococcus pneumoniae demonstrated a significant increase in resistance to erythromycin (pâ¯=â¯0.01) and ofloxacin, which jumped from 0.80% in 2003 to 80% in 2019 (pâ¯=â¯0.015). No statistically significant increase in antibiotic resistance trend was observed for Pseudomonas. CONCLUSIONS: An increasing antibiotic resistance pattern was demonstrated, particularly among gram-positive organisms. Such findings warrant revision of the common ocular antibiotic prescribing strategy and consideration of alternative antibiotics.
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To describe an unusual case of retinoblastoma in adult Saudi. A 21-year-old Saudi male developed acute unilateral visual loss due to a large intraocular lesion in his left eye. Within five days of presentation, the tumor enlarged rapidly causing angle closure glaucoma and orbital cellulitis like picture. The patient underwent enucleation and the histopathology specimen confirmed the presence of an undifferentiated type tumor cell that was consistent with retinoblastoma with choroidal and optic nerve invasion. Retinoblastoma should be considered in the differential diagnosis of an intraocular mass in adults. To the best of our knowledge, this is the first reported case of an adult presentation of retinoblastoma in Saudi patient.
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PURPOSE: To assess for gammaD-crystallin (CRYGD) mutation in 2 Saudi patients with cerulean cataract and in a brother of one of the patients who had coralliform cataract. METHODS: Patients and all of their available relatives underwent ophthalmic examination and subsequent sequencing of the candidate gene CRYGD. RESULTS: In the first family, a 4-year-old boy with bilateral cerulean cataract and his 6-year-old brother with similar bluish lens discoloration but in a coralliform pattern were heterozygous for the p.P23T CRYGD mutation. Their father and 2 older brothers, all of whom underwent childhood cataract surgery, also harbored the mutation while the 2 asymptomatic immediate family members did not. In the second family, a 7-year-old girl with bilateral cerulean cataract was heterozygous for the same CRYGD mutation. Details of her family history were limited. The patients in the two families shared a common disease haplotype. CONCLUSIONS: This first report of p.P23T CRYGD mutation underlying cerulean cataract in the Saudi population strongly supports the mutation's relation with the phenotype. Coralliform cataract can represent variable expressivity for the same mutation rather than a distinct entity.
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Sustitución de Aminoácidos/genética , Pueblo Asiatico/genética , Catarata/genética , Efecto Fundador , Heterocigoto , Mutación/genética , gamma-Cristalinas/genética , Secuencia de Bases , Niño , Preescolar , Familia , Femenino , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Prolina/genética , Arabia Saudita , Treonina/genéticaRESUMEN
Retinoblastoma is the most common intraocular cancer in children. While the primary tumor can often be treated by local or systemic chemotherapy, metastatic dissemination is generally resistant to therapy and remains a leading cause of pediatric cancer death in much of the world. In order to identify new therapeutic targets in aggressive tumors, we sequenced RNA transcripts in five snap frozen retinoblastomas which invaded the optic nerve and five which did not. A three-fold increase was noted in mRNA levels of ACVR1C/ALK7, a type I receptor of the TGF-ß family, in invasive retinoblastomas, while downregulation of DACT2 and LEFTY2, negative modulators of the ACVR1C signaling, was observed in most invasive tumors. A two- to three-fold increase in ACVR1C mRNA was also found in invasive WERI Rb1 and Y79 cells as compared to non-invasive cells in vitro. Transcripts of ACVR1C receptor and its ligands (Nodal, Activin A/B, and GDF3) were expressed in six retinoblastoma lines, and evidence of downstream SMAD2 signaling was present in all these lines. Pharmacological inhibition of ACVR1C signaling using SB505124, or genetic downregulation of the receptor using shRNA potently suppressed invasion, growth, survival, and reduced the protein levels of the mesenchymal markers ZEB1 and Snail. The inhibitory effects on invasion, growth, and proliferation were recapitulated by knocking down SMAD2, but not SMAD3. Finally, in an orthotopic zebrafish model of retinoblastoma, a 55% decrease in tumor spread was noted (p = 0.0026) when larvae were treated with 3 µM of SB505124, as compared to DMSO. Similarly, knockdown of ACVR1C in injected tumor cells using shRNA also resulted in a 54% reduction in tumor dissemination in the zebrafish eye as compared to scrambled shRNA control (p = 0.0005). Our data support a role for the ACVR1C/SMAD2 pathway in promoting invasion and growth of retinoblastoma.
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Receptores de Activinas Tipo I/metabolismo , Retinoblastoma/patología , Transducción de Señal , Proteína Smad2/metabolismo , Receptores de Activinas Tipo I/genética , Línea Celular Tumoral , Proliferación Celular , Regulación hacia Abajo , Regulación Neoplásica de la Expresión Génica , Humanos , Invasividad Neoplásica , Metástasis de la Neoplasia , Fenotipo , Proteína Smad2/genéticaRESUMEN
Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and a typical facial dysmorphism (prominent forehead, deep-set eyes, and abnormal external ears).(1,2) To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with Kenny-Caffey syndrome (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, macrocephaly, and postnatal (rather than prenatal) growth retardation.(1,3) Nanophthalmos and corneal opacity have been documented in Kenny-Caffey syndrome patients,(4) but ocular disease has not been well-described in HRD. We describe the ocular features of four Saudi Arabian HRD children referred to our institution for ocular complaints noted by their parents.
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Opacidad de la Córnea/diagnóstico , Anomalías Craneofaciales/diagnóstico , Hiperparatiroidismo/diagnóstico , Discapacidad Intelectual/diagnóstico , Queratitis/diagnóstico , Microftalmía/diagnóstico , Preescolar , Opacidad de la Córnea/genética , Anomalías Craneofaciales/genética , Femenino , Retardo del Crecimiento Fetal , Humanos , Hiperparatiroidismo/congénito , Lactante , Discapacidad Intelectual/genética , Queratitis/genética , Masculino , Microftalmía/genética , Chaperonas Moleculares/genética , Arabia Saudita/epidemiología , SíndromeRESUMEN
PURPOSE: To assess red reflex testing of the pharmacologically dilated pupil in screening for retinoblastoma. PATIENTS AND METHODS: Children with a family history of retinoblastoma or a history of treated retinoblastoma who were admitted to our institution for examination using anesthesia during a 3-month period underwent red reflex testing of the pharmacologically dilated pupil in a masked fashion. Red reflexes were classified as normal (unremarkable), abnormal (in brightness or color), or absent (no reflex, black pupil). The results of the screenings were later compared with actual retinal findings. RESULTS: Red reflex testing of the dilated pupil failed to identify all 13 eyes that harbored retinoblastoma lesions (all 13 were classified as normal). The 3 eyes that were identified as having abnormal red reflexes had neither disease nor significant refractive error. CONCLUSION: Red reflex testing of the dilated pupil is a poor screening technique for retinoblastoma.
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Técnicas de Diagnóstico Oftalmológico , Midriáticos/administración & dosificación , Pupila/efectos de los fármacos , Neoplasias de la Retina/diagnóstico , Retinoblastoma/diagnóstico , Preescolar , Ciclopentolato/administración & dosificación , Quimioterapia Combinada , Femenino , Humanos , Lactante , Masculino , Fenilefrina/administración & dosificación , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
Congenital cranial dysinnervation disorders are phenotypes of incomitant strabismus and/or ptosis. Recessive mutations in COL25A1 are a recently reported cause, but the associated ophthalmic phenotypes have not been detailed. We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence. Further study is needed to understand how frequently recessive COL25A1 mutations underlie these specific ocular phenotypes.
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Blefaroptosis/congénito , Síndrome de Retracción de Duane/genética , Exotropía/genética , Mutación , Colágenos no Fibrilares/genética , Blefaroptosis/diagnóstico , Niño , Preescolar , Consanguinidad , Síndrome de Retracción de Duane/diagnóstico , Femenino , Genes Recesivos , Humanos , Masculino , FenotipoRESUMEN
PURPOSE: To study the differential expression of microRNA (miRNA) profiles between intraocular medulloepithelioma (ME) and normal control tissue (CT). MATERIAL AND METHODS: Total RNA was extracted from formalin fixed paraffin embedded (FFPE) intraocular ME (n=7) and from age matched ciliary body controls (n=8). The clinical history and phenotype was recorded. MiRNA profiles were determined using the Affymetrix GeneChip miRNA Arrays analyzed using expression console 1.3 software. Validation of significantly dysregulated miRNA was confirmed by quantitative real-time PCR. The web-based DNA Intelligent Analysis (DIANA)-miRPath v2.0 was used to perform enrichment analysis of differentially expressed (DE) miRNA gene targets in Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway. RESULTS: The pathologic evaluation revealed one benign (benign non-teratoid, n=1) and six malignant tumors (malignant teratoid, n=2; malignant non-teratoid, n = 4). A total of 88 miRNAs were upregulated and 43 miRNAs were downregulated significantly (P<0.05) in the tumor specimens. Many of these significantly dysregulated miRNAs were known to play various roles in carcinogenesis and tumor behavior. RT-PCR validated three significantly upregulated miRNAs and three significantly downregulated miRNAs namely miR-217, miR-216a, miR-216b, miR-146a, miR-509-3p and miR-211. Many DE miRNAs that were significant in ME tumors showed dysregulation in retinoblastoma, glioblastoma, and precursor, normal and reactive human cartilage. Enriched pathway analysis suggested a significant association of upregulated miRNAs with 15 pathways involved in prion disease and several types of cancer. The pathways involving significantly downregulated miRNAs included the toll-like receptor (TLR) (p<4.36E-16) and Nuclear Factor kappa B (NF-κB) signaling pathways (p<9.00E-06). CONCLUSIONS: We report significantly dysregulated miRNAs in intraocular ME tumors, which exhibited abnormal profiles in other cancers as well such as retinoblastoma and glioblastoma. Pathway analysis of all dysregulated miRNAs shared commonalities with other cancer pathways.
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MicroARNs/genética , Tumores Neuroectodérmicos Primitivos/genética , Transcriptoma/genética , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Regulación hacia Abajo/genética , Femenino , Perfilación de la Expresión Génica/métodos , Humanos , Lactante , Masculino , FN-kappa B/genética , Transducción de Señal/genética , Receptores Toll-Like/genética , Regulación hacia Arriba/genéticaRESUMEN
PURPOSE: To report the outcome of cataract surgery in children with bilateral cataract and preoperative sensory nystagmus. DESIGN: Interventional case series. METHODS: Retrospective review of 95 children who underwent surgery for bilateral cataract associated with sensory nystagmus. All patients lacked other structural ocular defects or neurologic abnormalities and were old enough at last follow-up to cooperate with recognition visual acuity testing. Outcome parameters studied were best-corrected postoperative visual acuity of the better eye and postoperative reduction or elimination of nystagmus. RESULTS: Mean age at surgery +/- SD was 2.0 +/- 2.6 years (range, 1 month to 13 years). Mean follow-up was 6.1 +/- 3.4 years (range, 2 months to 15 years). Best-corrected postoperative visual acuity of the better eye ranged from 20/25 to counting fingers and was 20/60 or better in 44 (46%), between 20/60 and 20/200 in 37 (39%), and 20/200 or worse in 14 (15%). Preoperative recognition visual acuity data were available for 16 of the older patients, and 5 or more lines of visual acuity improvement occurred in 5 (31%) including children as old as 9 years at the time of surgery. Nystagmus was reduced or eliminated postoperatively in 38 (40%). Mild, as opposed to severe, preoperative nystagmus was predictive of both a better visual acuity outcome (P =.004) and reduced or eliminated nystagmus postoperatively (P =.02). CONCLUSIONS: Good or even excellent visual acuity can be achieved after cataract surgery in some children with bilateral cataract and sensory nystagmus, and the nystagmus sometimes improves postoperatively.
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Extracción de Catarata , Catarata/complicaciones , Nistagmo Patológico/etiología , Afaquia Poscatarata/rehabilitación , Catarata/fisiopatología , Extracción de Catarata/efectos adversos , Niño , Preescolar , Anteojos , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Periodo Posoperatorio , Estudios Retrospectivos , Resultado del Tratamiento , Agudeza VisualRESUMEN
PURPOSE: Retinoblastoma (RB) is known to present with atypical signs and symptoms in older patients. Our article reviews the clinical and histopathological features of RB encountered in children older than 5 years of age. METHODS: A total of 337 consecutive patients with RB were reviewed. Eighteen (5.3%; 10 males, 8 females) who presented after the age of 5 were selected for further analysis of clinical data and histopathological material in this retrospective, non-comparative case series. RESULTS: The age range was from 5 to 12 years (mean age 6.4). Unilateral disease was seen in 14 children, bilateral disease in 4 children. Eleven children were the product of consanguineous marriages. Seven patients had leukocoria; the others presented with signs of uveitis, cellulitis, and/or trauma. Three patients had flat, plaque-like lesions on histopathologic evaluation. CONCLUSIONS: Clinical and histopathologic features were atypical in 47% and 21% respectively in the retinoblastoma patients who presented after the age of 5 years.
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Neoplasias de la Retina/patología , Retinoblastoma/patología , Niño , Preescolar , Enucleación del Ojo , Femenino , Humanos , Masculino , Neoplasias de la Retina/cirugía , Retinoblastoma/cirugía , Estudios RetrospectivosAsunto(s)
Catarata/patología , Cristalino/patología , Catarata/genética , Preescolar , Humanos , Masculino , Agudeza VisualRESUMEN
BACKGROUND: Leber congenital amaurosis (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than neurodevelopmental delay, reported in up to 20% of cases according to one older study. The phenotype is typically autosomal recessive and is genetically heterogeneous. Although LCA is defined by a non-recordable electroretinogram (ERG) during infancy, many LCA studies include infants with low ERG readings and/or older children not phenotyped during infancy. More recent series of genetically confirmed LCA do not document the recurrent neurodevelopmental delay of older studies. We investigate the possibility that neurodevelopmental delay is not actually a recurrent feature of strictly defined otherwise non-syndromic LCA. METHODS: Retrospective consecutive case series (2012-2014) of children with strictly defined LCA, all of whom underwent targeted next-generation sequencing with a panel of 14 LCA genes. RESULTS: All families were endogamous and/or consanguineous. 18/19 (22/23 children) had detectable causative recessive mutations, and these were in one of three genes only: 11 in RPGRIP1, 5 in GUCY2D and 2 in RPE65. 9/11 children with RPGRIP1 mutations harboured homozygous c.1007delA (p.Glu370Asnfs*5) mutation. 5/23 children (22%) had concomitant neurodevelopmental delay, and these five children harboured recessive mutations in RPGRIP1 (2) or GUCY2D (3). Haplotype analysis for cases with the RPGRIP1 deletion suggested a single ancestral mutation. CONCLUSIONS: Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations. Strictly defining LCA can limit genetic heterogeneity. On the Arabian Peninsula, the phenotype is frequently from recessive RPGRIP1 mutations, most of which are a founder RPGRIP1 deletion.
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Encefalopatías/genética , Discapacidades del Desarrollo/genética , Guanilato Ciclasa/genética , Amaurosis Congénita de Leber/genética , Mutación , Proteínas/genética , Receptores de Superficie Celular/genética , Encefalopatías/diagnóstico , Niño , Preescolar , Consanguinidad , Proteínas del Citoesqueleto , Análisis Mutacional de ADN , Discapacidades del Desarrollo/diagnóstico , Electrorretinografía , Femenino , Estudios de Asociación Genética , Humanos , Lactante , Amaurosis Congénita de Leber/diagnóstico , Imagen por Resonancia Magnética , Masculino , Polimorfismo de Nucleótido Simple , Estudios Retrospectivos , cis-trans-Isomerasas/genéticaRESUMEN
OBJECTIVE: To present the epidemiologic profile and magnitude of ocular malignant tumors (MT) representative of the Saudi population from the Tumor Registry (TR) at King Khaled Eye Specialist Hospital (KKESH). METHODS: This study evaluated the demographic information, clinical features including tumor laterality, ocular tissue of origin, and diagnosis of patients from the TR registry between 1983 and 2012 at KKESH, Riyadh, Kingdom of Saudi Arabia. The incidence of MT among Saudi adults (>/= 15 years old), and children (<15 years old) was estimated. RESULTS: The TR recorded 4,146 neoplasms (2,509 [60.5%] benign tumors, and 1,637 [39.5%] MT). The incidence of MT in children was 3.6 per million/year (M/Y), and 2.4/M/Y for adults. Retinoblastoma (Rb) (n=763, 91%) was the most common ocular malignancy in children. In adults, the most common MT was squamous cell carcinoma (SCC) (n=363, 45.8%), basal cell carcinoma (BCC) (n=186, 23%), uvealmelanoma (n=94, 11.9%), sebaceous gland carcinoma (n=54, 6.8%), lymphomas (orbital, adnexal) (n=46, 5.8%), and others (n=53, 6.8%). The Rb (7.7/M/Y in <5 years old Saudi children) was less frequent than that reported in some Gulf countries, but higher than that reported from the West. The SCC was less frequent in countries with comparable sun exposure than in other continents, but the incidence remained unchanged over 3 decades. There was a significant increase in BCC between 1983-1992 and 2003-2012. CONCLUSION: The rates of all cancers remained stable over 3 decades except BCC, which showed a significant rise.
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Neoplasias del Ojo/epidemiología , Sistema de Registros , Adolescente , Adulto , Carcinoma de Células Escamosas/epidemiología , Niño , Preescolar , Femenino , Humanos , Incidencia , Masculino , Retinoblastoma/epidemiología , Arabia Saudita/epidemiología , Adulto JovenRESUMEN
BACKGROUND: Knobloch syndrome is defined as a triad of occipital defect, high myopia and vitreo-retinal degeneration (often with later retinal detachment); however, the ocular phenotype is not well defined. This report characterises eye findings of the syndrome in children with genetically confirmed disease. METHODS: Case series of Saudi children with previously documented homozygous mutations in COL18A1 or ADAMTS18. RESULTS: All eight children (4-15 years old; five families) had smooth (cryptless) irides, high myopia (-10 to -20 dioptres) and distinctive vitreo-retinal degeneration consisting of diffuse very severe retinal pigment epithelium atrophic changes with prominent choroidal vessel show, macular atrophic lesions with or without a 'punched out' appearance and white fibrillar vitreous condensations. In two probands and a sibling, this distinctive retinal appearance was the basis for initial clinical diagnosis. Six children had temporal ectopia lentis and four had posterior perinuclear lens opacity. Additional features included developmental delay (two), epilepsy (one) and heterotopic grey matter in the lateral ventricles (one). Four children had no clinically discernible occipital defect. CONCLUSION: Taken together, smooth iridies, ectopia lentis and characteristic vitreo-retinal degeneration seem pathognomonic. Although it is a defining feature of the syndrome, clinically discernible occipital defect is not a sine qua non for the diagnosis. Ophthalmologists are uniquely able to diagnose Knobloch syndrome.
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Encefalocele/patología , Iris/anomalías , Miopía Degenerativa/diagnóstico , Degeneración Retiniana/diagnóstico , Desprendimiento de Retina/congénito , Proteínas ADAM/genética , Proteínas ADAMTS , Adolescente , Atrofia , Niño , Preescolar , Colágeno Tipo VIII/genética , Consanguinidad , Desplazamiento del Cristalino/diagnóstico , Desplazamiento del Cristalino/genética , Electrorretinografía , Encefalocele/genética , Femenino , Humanos , Masculino , Miopía Degenerativa/genética , Fenotipo , Degeneración Retiniana/genética , Desprendimiento de Retina/genética , Desprendimiento de Retina/patología , Epitelio Pigmentado de la Retina/patologíaRESUMEN
OBJECTIVE: Medulloepithelioma is a rare intraocular embryonal neuroepithelial tumour. The study aims at identifying the causes for the delay in diagnosis and treatment. DESIGN: A retrospective study of all cases with histopathologic diagnosis of medulloepithelioma over a period of 25 years. PARTICIPANTS: Six patients with intraocular tumour in 6 eyes. METHODS: A data collection sheet is used for clinical and radiologic information based on charts review. The histologic sections are reviewed by a single pathologist. RESULTS: All cases presented initially in childhood with equal sex distribution. There was a delay of up to 5 years until final diagnosis and management. The most common clinical findings were high intraocular pressure and/or cataract in 4 cases, visible mass/uveitis/iris neovascularization and buphthalmos each presenting in 50% of the patients. The diagnosis was established clinically in 2 cased and by ultrasound in 4 cases. The tumour was mostly malignant (4/6) and 2 cases were classified as teratoid (1 benign and 1 malignant). All patients were successfully treated by enucleation with a follow-up period up to 18 years. CONCLUSIONS: Medulloepithelioma is a rare intraocular tumour often misdiagnosed and treated as glaucoma or uveitis. Ultrasonography is a useful additional tool for diagnosis. Enucleation seems to be an appropriate method of treatment specially when diagnosis is delayed and malignancy is suspected. Ophthalmologists need to be more familiar with this tumour to allow early clinical recognition and diagnosis.
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Cuerpo Ciliar/patología , Tumores Neuroectodérmicos Primitivos/diagnóstico , Neoplasias de la Úvea/diagnóstico , Adolescente , Catarata/diagnóstico , Niño , Preescolar , Enucleación del Ojo , Femenino , Estudios de Seguimiento , Humanos , Presión Intraocular , Masculino , Estudios RetrospectivosRESUMEN
INTRODUCTION: Intra-arterial chemotherapy (chemosurgery) for the treatment of retinoblastoma has been performed more than 1600 times (more than 1400 times in Japan and 200 times in New York) over the past 20 years.Despite this treatment's success some eyes cannot be saved and require enucleation. Here we report the histopathologic findings of the remaining intraocular tumor of eyes that were enucleated following treatment that included chemosurgery in New York City. MATERIALS AND METHODOLOGY: Independent histopathologic review of the enucleated eyes was correlated with the clinical findings that prompted enucleation. RESULTS: Between May 1, 2006 and April 30, 2009, 56 eyes received chemosurgery at our institution, and 10 of these were enucleated subsequently. All were Reese Ellsworth Group 5 at enucleation. Of the 21 eyes that were treated with chemosurgery as the primary treatment, 1 (5%) was enucleated subsequently; its histopathology revealed residual non-necrotic, non-calcified tumor. Of the 34 eyes treated with chemosurgery after other treatments, 9 (24%) were enucleated, and 5 of these eyes contained non-calcified, non-necrotic tumor. None was enucleated for complications of chemosurgery. All patients were alive and free of metastatic disease as of September 2009. CONCLUSIONS: A significant number of eyes with advanced intraocular retinoblastoma avoided enucleation as a result of chemosurgery. The rate of eyes that were enucleated was higher when chemosurgery was the secondary rather than the primary treatment. Of the eight eyes enucleated for progressive disease six had non-necrotic, non-calcified tumor cells.