Diagnóstico clínico y genético de un caso de síndrome de Meretoja e intervención mediante lifting frontotemporal / Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure

Un varón de 56 años con antecedentes familiares de distrofia corneal consulta por mala visión subjetiva. La biomicroscopia revela una distrofia estromal reticular bilateral y la inspección facial muestra signos de disfunción muscular, como ptosis de cejas, debilidad y descolgamiento de la musculatura frontal, piel redundante en la frente e hiperelasticidad cutánea. El paciente es remitido a cirugía plástica para valoración de la afectación muscular frontal, siendo intervenido mediante lifting frontotemporal. Por otro lado, se realiza estudio genético que confirma la variante patogénica c.640G>A (p.Asp214Asn) en el gen GSN, que codifica la gelsolina, mutación asociada con la amiloidosis familiar tipo finlandés o síndrome de Meretoja (AU)

A 56-year-old male with family background of corneal dystrophy presents with poor subjective vision. Biomicroscopy reveals bilateral reticular stromal dystrophy and facial inspection shows signs of muscle dysfunction, such as eyebrow ptosis, weakness and sagging of the frontal muscles, redundant skin on the forehead and skin hyperelasticity. The patient is referred to plastic surgery for evaluation of the frontal muscle involvement, undergoing a frontotemporal lifting procedure. On the other hand, genetics confirms the pathogenic variant c.640G>A (p.Asp214Asn) in the GSN gene, encoding gelsolin, a mutation associated with Finnish-type familial amyloidosis or Meretoja syndrome (AU)

Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure.

A 56-year-old male with family background of corneal dystrophy presents with poor subjective vision. Biomicroscopy reveals bilateral reticular stromal dystrophy and facial inspection shows signs of muscle dysfunction, such as eyebrow ptosis, weakness and sagging of the frontal muscles, redundant skin on the forehead and skin hyperelasticity. The patient is referred to Plastic Surgery for evaluation of the frontal muscle involvement, undergoing a frontotemporal lifting procedure. On the other hand, genetics confirms the pathogenic variant c.640G>A (p.Asp214Asn) in the GSN gene, encoding gelsolin, a mutation associated with Finnish-type familial amyloidosis or Meretoja syndrome.

Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F / Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing

Un varón de 4 años, sin antecedentes relevantes, consulta por disminución de agudeza visual bilateral, más acusada en condiciones escotópicas, que no mejora con corrección óptica. No se aprecian alteraciones fundoscópicas significativas, por lo que se sospecha una distrofia retiniana. La secuenciación del gen CACNA1F detecta la mutación c.3081C > A (p.Tyr1027Ter), que se ha producido de novo en la madre del paciente. Esta mutación, en el contexto clínico referido y con un patrón electronegativo compatible, establece el diagnóstico de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X. La electrofisiología y el estudio genético deben formar parte del protocolo diagnóstico de cualquier pérdida de visión inexplicada en niños. La descripción, la nomenclatura y la clasificación de las distrofias retinianas hereditarias con base en sus características genotípicas y electrorretinográficas evita los errores diagnósticos derivados de su habitual superposición clínica y fenotípica

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C > A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap

Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing. / Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F.

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C>A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap.

Suturas transconjuntivales del tapete escleral en maculopatía hipotónica tardía tras esclerectomía profunda no perforante / Transconjunctival suturing of the scleral flap in late hypotony maculopathy after non-penetrating deep sclerectomy

CASO CLÍNICO: Un hombre de 63 años desarrolla una maculopatía hipotónica tardía tras una esclerectomía profunda no perforante. La sutura transconjuntival del tapete escleral permite resolver la hipotonía y la normalización de la agudeza visual. DISCUSIÓN: La maculopatía hipotónica puede presentarse de forma diferida tras una cirugía de glaucoma. Las suturas transconjuntivales del tapete escleral son una alternativa en el tratamiento de la hipotonía cuando las medidas conservadoras han fracasado

CLINICAL CASE: A 63-year-old man presents with late hypotony maculopathy after non-penetrating deep sclerectomy. Hypotonia and visual acuity are improved after transconjunctival suturing of the scleral flap. DISCUSSION: Hypotony maculopathy may occur as a late complication after glaucoma surgery. Transconjunctival suturing of the scleral flap can be useful when conservative measures have failed

Transconjunctival suturing of the scleral flap in late hypotony maculopathy after non-penetrating deep sclerectomy. / Suturas transconjuntivales del tapete escleral en maculopatía hipotónica tardía tras esclerectomía profunda no perforante.

CLINICAL CASE: A 63-year-old man presents with late hypotony maculopathy after non-penetrating deep sclerectomy. Hypotonia and visual acuity are improved after transconjunctival suturing of the scleral flap. DISCUSSION: Hypotony maculopathy may occur as a late complication after glaucoma surgery. Transconjunctival suturing of the scleral flap can be useful when conservative measures have failed.

Retinopatía por radiación secundaria a tratamiento de carcinoma de seno maxilar: un caso dramático / Radiation retinopathy secondary to treatment of maxillary sinus carcinoma: a dramatic case

Caso clínico: Un varón de 53 años consulta por pérdida de visión en ojo derecho tras irradiación de carcinoma de seno maxilar derecho. La exploración funduscópica muestra hemorragias, exudados, edema macular e isquemia retiniana periférica, compatibles con una retinopatía por radiación. La evolución es tórpida a pesar de tratamiento con láser e inyecciones intravítreas de bevacizumab, finalizando en evisceración del ojo afecto. Discusión: La retinopatía por radiación debe tenerse en cuenta ante cualquier pérdida de visión tras irradiación de cabeza y cuello. El seguimiento oftalmológico a largo plazo de estos pacientes es fundamental para conseguir un diagnóstico precoz (AU)

Clinical case: A 53-year old male presented with visual impairment in right eye after irradiation of right maxillary sinus carcinoma. Funduscopy shows radiation retinopathy: haemorrhages, exudates, macular oedema, and peripheral retinal ischaemia. A poor outcome was achieved despite laser treatment and intravitreal injections of bevacizumab, resulting in evisceration of the affected eye. Discussion: Radiation retinopathy must be considered in any loss of vision after head and neck irradiation. Ophthalmological long-term follow-up of these patients is essential for an early diagnosis (AU)

Radiation retinopathy secondary to treatment of maxillary sinus carcinoma: a dramatic case. / Retinopatía por radiación secundaria a tratamiento de carcinoma de seno maxilar: un caso dramático.

CLINICAL CASE: A 53-year old male presented with visual impairment in right eye after irradiation of right maxillary sinus carcinoma. Funduscopy shows radiation retinopathy: haemorrhages, exudates, macular oedema, and peripheral retinal ischaemia. A poor outcome was achieved despite laser treatment and intravitreal injections of bevacizumab, resulting in evisceration of the affected eye. DISCUSSION: Radiation retinopathy must be considered in any loss of vision after head and neck irradiation. Ophthalmological long-term follow-up of these patients is essential for an early diagnosis.

Síndrome oculoglandular de Parinaud: a propósito de un caso / Parinaud’s oculoglandular syndrome: a case report

CASO CLÍNICO: Una mujer de 33 años consulta por conjuntivitis granulomatosa unilateral, adenopatías regionales homolaterales y fiebre. Se demuestra una infección por Bartonella henselae mediante inmunofluorescencia indirecta y se establece el diagnóstico de síndrome oculoglandular de Parinaud. La evolución después de tratamiento con doxiciclina oral es satisfactoria. Discusión: El síndrome oculoglandular de Parinaud es la manifestación ocular más frecuente de una infección por Bartonella henselae

CLINICAL CASE: 33-year old woman presents with unilateral granulomatous conjunctivitis, ipsilateral regional lymphadenopathy and fever. A Bartonella henselae infection is demonstrated by indirect immunofluorescence, and a diagnosis of a Parinaud’s oculoglandular syndrome is established. Outcome after treatment with oral doxycycline is satisfactory. Discussion: Parinaud’s oculoglandular syndrome is the most frequent ocular manifestation of a Bartonella henselae infection

Parinaud's oculoglandular syndrome: A case report. / Síndrome oculoglandular de Parinaud: a propósito de un caso.

CLINICAL CASE: A 33-year old woman presents with unilateral granulomatous conjunctivitis, ipsilateral regional lymphadenopathy and fever. A Bartonella henselae infection is demonstrated by indirect immunofluorescence, and a diagnosis of a Parinaud's oculoglandular syndrome is established. Outcome after treatment with oral doxycycline is satisfactory. DISCUSSION: Parinaud's oculoglandular syndrome is the most frequent ocular manifestation of a Bartonella henselae infection.