Nous rapportons le cas d'un homme de 27 ans qui a consulté par télémédecine lors de la pandémie de Coronavirus Disease 2019 (COVID-19), pour une sensation de corps étranger et une rougeur à l'oeil gauche. L'examen a révélé un oedème palpébral unilatéral et une hyperémie conjonctivale diffuse modérée. Quelques heures plus tard, le patient a présenté des céphalées intenses, de la fièvre, de la toux et une dyspnée sévère, et une PCR nasopharyngée est revenue positive au SARS-CoV-2, posant le diagnostic de COVID-19. Ce cas démontre la possibilité d'une conjonctivite inaugurale lors de l'infection COVID-19. Il illustre l'intérêt de la télémédecine en ophtalmologie lors de la pandémie, une hyperémie conjonctivale modérée pouvant être le premier signe d'une détresse respiratoire sévère. Abstract We report here the case of a 27-year-old man who consulted by telemedicine during the Coronavirus Disease 2019 (COVID-19) pandemic, due to foreign body sensation and left eye redness. Examination revealed unilateral eyelid edema and moderate conjunctival hyperemia. A few hours later the patient experienced intense headache and developed fever, cough and severe dyspnea. A nasopharyngeal swab proved positive for SARS-CoV-2. This case demonstrates that conjunctivitis can be the inaugural manifestation of the COVID-19 infection. It illustrates the interest of telemedicine in ophthalmology during the COVID-19 pandemic, since moderate conjunctival hyperemia can be the first sign of a severe respiratory distress. Page 4 of 7 J o u r n a l P r e -p r o o f Legend Figure 1: Smartphone photograph of a left eye conjunctivitis as first presentation of Coronavirus Disease 2019 during teleophthalmology consultation. A. Left eyelid edema. B. Moderate temporal conjunctival hyperemia of the left eye. C. Inferior bulbar conjunctival hyperemia of the left eye.

Purpose: Vernal keratoconjunctivitis (VKC) is a chronic, allergic, and potentially severe ocular disease affecting children and adolescents that can lead to impaired quality of life (QoL) and loss of vision. This study evaluated the efficacy and safety of an investigational therapy for severe VKC, cyclosporine A (CsA) cationic emulsion (CE), an oil-in-water emulsion with increased bioavailability versus conventional CsA formulations.Design: The VErnal KeratoconjunctiviTIs Study (VEKTIS) is a phase 3, multicenter, double-masked, vehiclecontrolled trial.Participants: Pediatric patients (4 to younger than 18 years) with active severe VKC (grade of 3 or 4 on the Bonini severity scale) and severe keratitis (corneal fluorescein staining [CFS] score of 4 or 5 on the modified Oxford scale).Methods: One hundred sixty-nine patients were randomized to CsA CE 0.1% (1 mg/ml) eye drops 4 times daily (high dose), CsA CE twice daily (low dose) plus vehicle twice daily, or vehicle 4 times daily for 4 months.Main Outcome Measures: The primary end point was a mean composite score that reflected CFS, rescue medication use (dexamethasone 0.1% 4 times daily), and corneal ulceration over the 4 months.Results: Differences in least-squares means versus vehicle for the primary end point were statistically significant for both the high-dose (0.76; P ¼ 0.007) and the low-dose (0.67; P ¼ 0.010) groups, with treatment effect mainly driven by CFS score. Significant differences were found between both active treatment groups and vehicle for use of rescue medication. Vernal keratoconjunctivitis symptoms and patient QoL (assessed by visual analog scale and the Quality of Life in Children with Vernal Keratoconjunctivitis questionnaire) improved in all 3 groups, with significant improvements for high-dose CsA CE versus vehicle.Conclusions: The efficacy of high-dose CsA CE in improving keratitis, symptoms, and QoL for those with severe VKC was demonstrated in these study patients. In addition, in this study cohort, CsA CE was well tolerated.

We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here.

Based on the most likely hypotheses concerning disease duration and non-responding ophthalmologists' VKC case rate, the best estimate of VKC prevalence in Western Europe is 3.2/10,000 inhabitants. The prevalence of VKC with corneal complications is 0.8/10,000 inhabitants.

CHARGE syndrome (OMIM #214800) is a multiple malformation syndrome with distinctive diagnostic criteria, usually because of CHD7 (chromodomain helicase DNA binding 7) haploinsufficiency. Familial occurrence of CHARGE syndrome is rare. We report six patients from two Caucasian families (both with one parent and two children) affected by mild to severe CHARGE syndrome. Direct sequencing of the CHD7 gene was performed in these two unrelated families. A mutation in exon 8 (c.2501C>T - p.S834F) in first chromodomain was found in family A and a nonsense mutation in exon 2 (c.469C>T - p.R157X) in family B. Both mutations are de novo in the parents. In family A, the elder son had bilateral cleft lip and palate, esophageal atresia with fistula, complex heart defect and vertebral abnormalities, while the younger had a posterior coloboma. Their mother had asymptomatic vestibular dysfunction and retinal coloboma, identified after the molecular diagnosis of her children. In family B, both affected children had severe expression of CHARGE syndrome. The father carrying the mutation only had asymmetric anomaly of the pinnae. These familial reports describe the intrafamilial variability of CHARGE syndrome, and underline the presence of CHD7 mutations in patients who do not fit the 'classical clinical criteria' for CHARGE syndrome.

We report on a 3‐year‐old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra‐umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge‐shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as “3MC syndrome” (Malpuech‐Michels‐Mingarelli‐Carnevale syndrome). © 2005 Wiley‐Liss, Inc.

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Those questions where consensus was not reached highlight areas of either poor evidence or contradicting evidence, and may help investigators identify possible research questions.