CASO CLÍNICO 2 Semana 20-24 Octubre 2014 Cristina Montón Giménez

CAPAS DE LA RETINA

DIAGNÓSTICO DIFERENCIAL Nevus coroideo Melanoma coroideo Melanocitoma coroideo Hipertrofia congénita del EPR Típica solitaria Típica agrupada Atípica Hamartoma combinado del EPR y retina Hamartoma del EPR ¿QUÉ SERÁ, QUÉ SERÁ? ¿SERÁ MALIGNO?

Tumores coroides Melanoma coroideo Nevus coroideo Melanocitoma Coristoma óseo coroideo Tumores metastásicos coroideo Hemangioma coroideo circunscrito o difuso Tumores coroides

NEVUS COROIDEO TÍPICO

NEVUS COROIDEO SOSPECHOSO

NEVUS COROIDEO SOSPECHOSO CON LIPOFUCSINA SUPERFICIAL

NEVUS COROIDEO TÍPICO CON DRUSAS SUPERFICIALES

MELANOMA

Clinical factors in the identification of small choroidal melanoma. Can J Ophthalmol. 2004 Jun;39(4):351-7. Clinical factors in the identification of small choroidal melanoma. Shields CL1, Demirci H, Materin MA, Marr BP, Mashayekhi A, Shields JA. The detection and treatment of choroidal melanoma early in its natural course is critical to providing the patient with the best prognosis. Studies of tumour doubling time have indicated that metastasis from choroidal melanoma can occur quite early in the course of the disease, when the tumour is about 3.0 mm in basal dimension and 1.5 mm in thickness. Clinical studies have shown that, at 5 years, metastasis occurs in 16% of patients with small choroidal melanomas (less than 4 mm thick), compared with 32% of those with medium-sized (4-8 mm thick) choroidal melanomas and 53% of those with large (more than 8 mm thick) choroidal melanomas. The difficulty with early detection of choroidal melanoma relates to its clinical similarity to benign choroidal nevus. Factors that assist in differentiating small choroidal melanoma from choroidal nevus can be remembered using the mnemonic "TFSOM" (to find small ocular melanoma), where T = thickness greater than 2 mm, F = subretinal fluid, S = symptoms, O = orange pigment and M = margin touching optic disc. Choroidal melanocytic tumours that display none of these factors have a 3% risk of growth into melanoma at 5 years and most likely represent choroidal nevi. Tumours that display one factor have a 38% risk of growth, and those with two or more factors show growth in over 50% of cases. Most tumours with two or more risk factors probably represent small choroidal melanomas, and early treatment is generally indicated. Therefore, ophthalmologists should be aware of the clinical factors that identify small choroidal melanoma so that early treatment and better prognosis can be achieved for their patients. PMID: 15327099 [PubMed - indexed for MEDLINE] Ecografía de gran resolución 2mm en BMU= 1,2 mm OCT OCT última generación "TFSOM” (to find small ocular melanoma) T = thickness greater than 2 mm F = subretinal fluid S = symptoms O = orange pigment M = margin touching optic disc two or more risk factors small choroidal melanomas early treatment

increased tumor thickness subretinal fluid Arch Ophthalmol. 2012 Jul;130(7):850-6. doi: 10.1001/archophthalmol.2012.1135. Enhanced depth imaging optical coherence tomography of small choroidal melanoma: comparison with choroidal nevus. Shields CL1, Kaliki S, Rojanaporn D, Ferenczy SR, Shields JA. OBJECTIVE: To evaluate characteristics of small choroidal melanoma using enhanced depth imaging spectral-domain optical coherence tomography (EDI-OCT). DESIGN: Retrospective comparative analysis. RESULTS: Of 37 eyes with small choroidal melanoma imaged using EDI-OCT, the mean tumor thickness was 1025 μm by EDI-OCT compared with 2300 μm by ultrasonography. By EDI-OCT, choroidal features included optical shadowing in 36 (100%) and overlying choriocapillaris thinning in 37 (100%). Outer retinal features included shaggy photoreceptors in 18 (49%), as well as absence (structural loss) of photoreceptors in 9 (24%), inner segment-outer segment junction in 24 (65%), external limiting membrane in 16 (43%), outer nuclear layer in 6 (16%), and outer plexiform layer in 4 (11%). Inner retinal features included irregularity of inner nuclear layer in 3 (8%), inner plexiform layer in 3 (8%), ganglion cell layer in 3 (8%), and nerve fiber layer in 2 (5%). Also identified were subretinal fluid in 34 (92%), subretinal lipofuscin deposition in 35 (95%), and intraretinal edema in 6 (16%). Using EDI-OCT, a comparison with similar-sized choroidal nevus revealed that small choroidal melanoma showed increased tumor thickness, subretinal fluid, subretinal lipofuscin deposition, and retinal pigment epithelium atrophy. Statistically significant EDI-OCT features for small choroidal melanoma included intraretinal edema (P=.003), shaggy photoreceptors or loss of photoreceptors (P=.005), loss of external limiting membrane (P=.008), loss of inner segment-outer segment junction (P=.02), irregularity of inner plexiform layer (P=.04), and irregularity of ganglion cell layer (P=.04) (t test and χ2 test). Shaggy photoreceptors were found overlying small choroidal melanoma in 18 (49%) but were not observed overlying choroidal nevus (P<.001). CONCLUSIONS: Small choroidal melanoma tumor thickness was overestimated by 55% on ultrasonography compared with EDI-OCT. The EDI-OCT features of small choroidal melanoma compared with choroidal nevus include increased tumor thickness, subretinal fluid, subretinal lipofuscin deposition, and retinal irregularities, including shaggy photoreceptors. PMID: 22776921 [PubMed - indexed for MEDLINE Small choroidal melanoma tumor thickness was overestimated by 55% on ultrasonography compared with EDI-OCT. EDI-OCT increased tumor thickness subretinal fluid subretinal lipofuscin deposition retinal irregularities, shaggy photoreceptors

EDI-OCT SEO 2014 Enhanced Depth Imaging (EDI)-OCT Imaging beyond the RPE SPECTRALIS® OCT. External retinal layers Choroid Lamina cribrosa It allows to detect structural changes ‘beyond the RPE’ in a reproducible fashion difficult to capture with standard OCT. EDI-OCT complements the applications of OCT and can be easily integrated in practical and clinical protocols. During a single examination, it can be easily switched between ‘normal’ and ‘EDI-OCT’ mode making it friendly for both the patient and the operator. The imaging modality is completely non-invasive. EDI-OCT is based on established Heidelberg Technologies such as TruTrack™ Active Eye Tracking, Heidelberg Noise Reduction™ and AutoRescan™. http://www.heidelbergengineering.com/international/products/spectralis/imaging-modes/edi-oct/

MELANOCITOMA Benigno Negros Hallazgo casual Melanocitoma uveal anterior: necrosis aguda: uveítis, dispersión de pigmento, glaucoma secundario. Melanocitos dendríticos de la úvea en la lámina cribosa del NO MELANOCITOMA Lesión negra muy pigmentada. Bordes mal definidos. Parte inferior papila. A v sobreelevado, a v toda papila. Complicaciones rara. Transformación maligna, OV/ACR. No precisa tratamiento.

Melanocytoma of the Optic Disk: A Review Jerry A. Shields, MD, Hakan Demirci, MD, Arman Mashayekhi, MD, Ralph C. Eagle Jr., MD, Carol L. Shields, MD Melanocytoma is a deeply pigmented variant of melanocytic nevus that classically occurs in the optic disk, sometimes with contiguous involvement of the adjacent retina or choroid. Historically, this tumor was often confused with malignant melanoma both clinically and histopathologically. Today, however, it is generally recognized by its typical clinical features that differ from most melanomas and erroneous enucleation is rarely done. Histopathologically, melanocytoma is composed of intensely pigmented round to oval nevus cells with benign features. Although traditionally believed to be a relatively stationary lesion, it is now known to exhibit minor enlargement in 10–15% of cases and can cause minor visual loss by a variety of mechanisms. In rare instance, it can induce severe visual loss due to spontaneous necrosis of the lesion or compressive optic neuropathy. More importantly, it can exhibit malignant transformation into melanoma in 1–2% of cases. Ophthalmologists should be familiar with melanocytoma of the optic disk and affected patients should be followed periodically. DOI: http://dx.doi.org/10.1016/j.survophthal.2005.12.011 Key words: choroid, eye, magnocellular nevus, melanocytoma, melanoma, optic disk, optic nerve, pseudomelanoma, retina, tumor, uvea, uveal tract Nervio óptico. Muy pigmentado. Benigno. 10-15% disminución AV leve. Muy rara disminución AV severa, por compresión neiropatía óptica. 1-2% transformación maligna. Seguimiento periódico.

HCEPR Hamartoma combinado EPR y retina Hamartoma EPR Tumores epr

IMPORTANTE DIAGNOSTICARLA HIPERTROFIA DEL EPR BENIGNA Y FRECUENTE Típica Solitaria Agrupada Atípica (asociación sistémica) IMPORTANTE DIAGNOSTICARLA

HIPERTROFIA CONGÉNITA SOLITARIA TÍPICA DEL EPITELIO PIGMENTARIO DE LA RETINA CON DESPIGMENTACIÓN PERIFÉRICA

HIPERTROFIA CONGÉNITA DEL EPR TÍPICA SOLITARIA 1-3 diámetro papilares, bien delimitada, redondeada u ovalada. Unilateral. Plana, gris oscura o negra. Halo hipopigmentación justo por dentro del borde. Con la edad las lagunas de hipopigmentación se agrandan y unen y pueden volverse casi totalmente despigmentadas excepto el halo del margen pigmentado.

HIPERTROFIA CONGÉNITA AGRUPADA TÍPICA DEL EPITELIO PIGMENTARIO DE LA RETINA

HIPERTROFIA CONGÉNITA DEL EPR TÍPICA AGRUPADA Redondeada u ovalada, bien delimitada, de tamaño variable. Patrón huellas de oso. En un cuadrante, más pequeñas más centrales. Unilateral. Plana, gris oscuro o negro.

HIPERTROFIA CONGÉNITA ATÍPICA DEL EPITELIO PIGMENTARIO DE LA RETINA

HIPERTROFIA CONGÉNITA DEL EPR ATÍPICA Múltiples, bilaterales. Ampliamente separadas. Ovaladas o fusiformes, de tamaño varable. Hipopigmentción en el margen. Pigmentadas, despigmentadas o heterogéneas. Distribución al azar. ASOCIACIÓN: Poliposis adenomatosa familiar. El 80% de los pacientes con PAF tienen HCEPR atípica. Criterio diagnóstico: 4 lesiones o 2 con una grande. Síndrome de Gardner. Síndrome de Turcot. PIC DIGESTIVO

Solitary congenital hypertrophy of the retinal pigment epithelium ☆: Clinical features and frequency of enlargement in 330 patients Carol L Shields, MD1, , Arman Mashayekhi, MD1, Thucanh Ho, MD1, Jacqueline Cater, PhD1, Jerry A Shields, MD1 18 March 2003, Available online 15 October 2003 ophthalmology Objective To describe the clinical features of solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE) and to determine the frequency of enlargement of this lesion Design Retrospective, observational, noncomparative case series. Participants Three hundred thirty consecutive patients with solitary CHRPE. Main outcome measures The 3 main outcome measures included flat lesion enlargement, intralesional lacunae enlargement, and development of an elevated nodule within the lesion. The clinical features at the time of presentation were analyzed for their impact on the main outcomes using a series of Cox proportional hazards regressions. Results The most common referring diagnosis included choroidal nevus (26%), choroidal melanoma (15%), CHRPE (9%), and unspecified lesion (48%). The median age at diagnosis was 45 years (range, 1–80 years), and there were no patients with familial adenomatous polyposis or related colon cancer, although a history of cancer was noted in 8% of patients, most commonly breast cancer (3%). The lesion most frequently was located inferotemporally (31%) and at the equatorial region (45%). Rarely, it was located in the macula (1%) or peripapillary region (1%). The median largest basal diameter was 4.5 mm, and the lesion was flat in all cases except in 5 (1.5%), in which there was an intralesional lesion nodule. The lesion was pigmented in 88% of cases and nonpigmented in 12%. Lacunae were noted in 43% of the pigmented CHRPE, and the lacunae showed gradual enlargement in 32%. Factors related to lacunae enlargement included number and relative size of lacunae. Flat enlargement of the lesion was documented in 46% of patients with comparative photographic follow-up and in 83% of those followed up for more than 3 years. The median rate of enlargement was 10 μm per month. The most important factor associated with flat lesion enlargement was relative size of the lacunae within CHRPE. There were no cases of CHRPE in which a nodule developed while the patient was being followed up. Of the 5 lesions that had a nodule, progressive enlargement of the nodule was found in 3. Conclusions Congenital hypertrophy of the retinal pigment epithelium generally has been regarded as a benign, stable lesion, but subtle, flat enlargement was noted in most patients (83%) followed up for 3 or more years using meticulous photographic comparison. Flat enlargement of the lesion appeared to be related to percentage of the mass occupied by lacunae. Manuscript no. 220845. DOI: 10.1016/S0161-6420(03)00618-3 Benigna Estable Ampliación plana (83%) relacionado con el porcentaje de la masa ocupada por lagunas

HAMARTOMA COMBINADO EPR Y RETINA Raro Benigno Hombres NF-2 Unilateral OCT, AFG Diagnóstico diferencial: tumor coriodeo, retinoblastoma. Seguimiento periódico. Pérdida de AV por complicaciones. Pérdida indolora AV. Yuxtapapilar: pigmentación, ligeramente sobreelevada, profunda, gris-marrón. MER, capilares dilatados y tortuosidad vascular. Periférico: primera infancia, estrabismo. NVC, EM, retinosquisis, DR. VPP malos resultados. Estrabismo en niños, oclusión por ambliopía. HAMARTOMA COMBINADO DE RETINA Y EPITELIO PIGMENTARIO RETINIANO. DIAGNóSTICO MEDIANTE TOMOGRAFÍA DE COHERENCIA ÓPTICA Y ANGIOFLUORESCEINGRAFÍA PÉREZ-ÁLVAREZ MJ, ALEJANDRE-ALBA N, GARCÍA-SÁNCHEZ J

HAMARTOMA DEL EPITELIO PIGMENTARIO DE LA RETINA

HAMARTOMA DEL EPITELIO PIGMENTARIO DE LA RETINA Pequeño lesión de color negro azabache. Muy infrecuente. Afecta al EPR, a menudo a la mácula. Se extiende a la superficie interna retiniana. COMBINADO DE RETINA MALIGNO? ARTÍCULO?

PUNTOS CLAVE Todos los nevus tienen que ser revisados con foto. Las HCEPR periféricas y solitarias no tienen que ser seguidas. Las HCEPR centrales se tienen que seguir hasta confirmar que no crecen ¿tiempo? ¿intervalo? Las HCEPR múltiples, descartar enfermedad sistémica. NEVUS DE BAJO RIESGO: foto cada año. Menos de 6 mm (pequeños), menos de 1 mm (planos), drusas, hiperpimentación EPR. NEVUS MEDIO RIESGO: foto cada 4-6 meses hasta al menos 1 año y ver que no crece. Después cada año. Mayor de 2 mm altura, lipofucsina. NEVUS ALTO RIESGO: derivar al oncólogo en 1 mes. Crecimiento, síntomas visuales, localización posterior (mácula) o múltiples factores.

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