Adel H. Alsuhaibani

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

BackgroundLipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families.MethodsClinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the fullECM1 gene.ResultsAll seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of ECM1 gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8.ConclusionsThese individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about ECM1 function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.

A prospective, randomised comparison of probing versus bicanalicular silastic intubation for congenital nasolacrimal duct obstruction

Purpose To compare the success rates of probing versus bicanalicular silastic intubation as the primary treatment for congenital nasolacrimal duct obstruction (CNLDO) in children ≥1 year old. Study design Prospective, randomised, comparison. Methods Participants were randomised to undergo probing or bicanalicular silastic intubation. In bilateral cases, the right eye was used for analysis. The procedure was considered successful when all preoperative manifestations disappeared with normal dye disappearance test and a positive Jones primary dye test at least 6 months postoperatively. Secondary outcomes were risk factors for failure. Outcomes were compared between treatments with p<0.05 indicating statistical significance. Results 207 eyes of 181 children between 1 and 8 years old with CNLDO who had not undergone previous surgical treatment were included in the study. 88 eyes underwent probing with a 84.1% success rate and 93 eyes that underwent bicanalicular silastic intubation had a 89.2% success rate (p=0.429). For simple CNLDO, there was a 94.2% (65/69) success rate with probing and a 90.9% (60/66) success rate with bicanalicular silastic intubation (p=0.687). In complex CNLDO, there was a 47.4% (9/19; p=<0.001) success rate with probing and an 85.2% (23/27; p=0.419) success rate with silastic intubation (p=0.016). Age was not a risk factor for failure in either procedure. Conclusions Probing for simple CNLDO in young children is adequate. Bicanalicular silastic intubation seems to have a role in achieving successful outcomes in complex CNLDO.

Optic nerve thickening and infarction as the first evidence of orbital involvement with mucormycosis

We report a 53-year-old female with uncontrolled diabetes mellitus who presented with decreased vision in the right eye for a few hours duration. Orbital computed tomography and magnetic resonance imaging were performed at presentation and showed a thickening and infarction of the right optic nerve with no other orbital abnormalities. A few days later, the patient developed necrosis in the region of the right medial canthus and nasal mucosa. Tissue biopsy confirmed the diagnosis of mucormycosis.

Long term follow up of mucous membrane grafting for cicatricial ectropion in Ichthyosis: A case report

Highlights • In this case report we highlight briefly the unique entities of Icthyosis, the commonest ophthalmological manifestation and the reported modalities of surgical therapy, which includes Mucous Membrane Graft (MMG).• Up to our knowledge this is the first reported long term follow up of MMG offered for Ichthyosis-related cicatricial ectropion.• Thus we believe that this case has a value in using MMG as the standard therapy for a generalized condition, which is not peculiar only to ophthalmologists.

Benign reactive lymphoid hyperplasia of the conjunctiva in childhood

Background/aim Our aim is to the report the clinical and histopathological features of benign reactive lymphoid hyperplasia (BRLH) of the conjunctiva in children and the outcomes of treatment. Methods A retrospective chart review was performed for children aged 0–18 years, diagnosed with conjunctival BRLH from January 2000 to December 2013 at two large ophthalmology hospitals in the Middle East. Data were collected on patient demographics, features of the lesions, the site of the lesion, location, adnexal involvement, lymph nodes involvement, local spread, histopathology and molecular genetic studies of the cases (if available), outcomes of treatment and recurrence. Results There were 24 patients with lymphoid lesions classified as conjunctival BRLH during the 12-year period evaluated in this study. The mean age at diagnosis was 11.6 years. Twenty-three patients were males (96%). Systemic medical history included three patients with bronchial asthma, one patient with Downs syndrome, one patient with generalised skeletal malformation and one patient with gastritis. The initial uncorrected visual acuity was 20/30 or better in 93.5% of the eyes. At presentation, the tumour was unilateral in 12 cases (50%). The conjunctival mass was located on the bulbar conjunctiva in all cases. The mass was present nasally in 96% of lesions. No cases (that were tested) had an infectious aetiology. PCR demonstrated monoclonality suggestive of lymphoma in two cases; however, this did not alter the final diagnosis as BRLH per histopathological criteria and clinical course, Conclusions All investigated cases of paediatric conjunctival BRLH had a benign clinical course with no local or systemic dissemination and a male predominance. Recurrence was rare, and in our cohort, it was not associated with malignant transformation.

Prominent corneal nerves: a novel sign of lipoid proteinosis

Aim Detailed longitudinal evaluation of corneal and other ophthalmological features of patients with lipoid proteinosis (LP). Methods Ophthalmological examinations, chart review, ultrasound biomicroscopy, corneal confocal microscopic examinations with Nidek confoScan 4 and direct sequencing of the extracellular matrix protein 1 gene in individuals from three consanguineous Saudi families with LP. Results Seven individuals affected with LP (four female and three male subjects) were evaluated together with nine unaffected parents and siblings. All affected individuals had homozygous mutations in extracellular matrix protein 1. Four patients were examined frequently (every 6 months) beginning in infancy and early childhood. Globe and vision were normal in all individuals, and moniliform blepharosis always appeared after the age of 4 years. Prominent corneal nerves were detected in all patients regardless of age and were more apparent in patients with more severe genetic mutations. Conversely, the severity of moniliform blepharosis seemed age-dependent rather than genotype-related. Conclusion Prominent corneal nerves can be helpful in the early diagnosis of LP and should be added to the list of LP ophthalmological diagnostic features.

Non-axial proptosis secondary to pneumosinus dilatans of the maxillary sinus

Pneumosinus Dilatans (PD) is a rare condition characterized by abnormal enlargement of one or more paranasal sinuses that can lead to different functional and cosmetic presentations. Here we report right non-axial proptosis in a 47-year-old female secondary to pneumosinus dilatans of the maxillary sinus with superior bowing of the orbital floor.

Clinical, radiological and histopathological characteristics of surgically removed orbital hematic cysts: A case series

Background Hematic cyst is a rare orbital condition that has a wide range of clinical presentation and is characterized pathologically by lack of endothelial lining. Purpose To correlate clinical and radiological features of hematic cysts, to tissue diagnosis, and investigate the possible etiology behind this condition, its relation to trauma and other interesting histopathological findings. Methods Retrospective case series at King Khaled Eye Specialist Hospital (KKESH) and King Abdulaziz University Hospital (KAUH) of all orbital lesions with tissue findings supporting the clinical and/or radiological diagnosis of hematic cyst. Results A series of 13 cases was studied, 8 males and 5 females. Age ranged from 2 to 84 years with a median of 54. Most cases presented with proptosis (76.9%) and limitation of eye movements (69.2%). History of trauma was confirmed in only 2/13. The clinical diagnosis of hematic cyst was made prior to surgery in 38.4%. Magnetic Resonance Imaging (MRI) confirmed the presence of blood in the orbit in 7/7. Surgical intervention was the mainstay of treatment. Histopathologically, these lesions demonstrated variable constituents including blood break-down products (hemosiderin), macrophages, mononuclear inflammatory cells, hemorrhage, absent endothelial lining, reactive fibrosis and capsule-like formation. Cholesterol clefts with typical granulomas and multinucleated giant cells were present in 2 cases. A clue to an underlying vascular lesion was found histopathologically in 30.8%. None of the patients developed recurrence or long-term complications with an average follow up period of 1 year. Conclusion Hematic cyst is a challenging clinical diagnosis that can be aided by radiological examination and histopathological confirmation. Trauma does not seem to play a major role while presence of a pre-existing vascular lesion with spontaneous hemorrhage may be an etiologic factor. Associated cholesterol granuloma is an interesting controversial finding. Surgical intervention is curative with possible persisting motility disturbance and/or the eye deviation and worse prognosis in post-traumatic cases.

Visual Function Improvement After Optic Nerve Sheath Fenestration in Osteopetrosis Patients with Optic Canal Stenosis: A Report of Two Cases

ABSTRACT The outcome of two patients with visual loss from osteopetrosis who underwent an optic nerve sheath fenestration (ONSF) is reported. A 20-year-old male and 26-year-old female with osteopetrosis had optic nerve edema. Computed tomography and magnetic resonance imaging demonstrated optic canals stenosis. Both patients underwent unilateral ONSF. After ONSF, the patients experienced improvement in visual acuity and optic nerve appearance. Therefore, when papilledema is recognized in osteopetrosis patients, it may be reasonable to start with an ONSF even if the optic canal seems to be stenotic because of the lower morbidity that is associated with this procedure compared with other surgical options.

Meibography for eyes with posterior blepharitis

Purpose To study the effect of posterior blepharitis on meibomian glands using infrared meibography and to correlate the results with tear film parameters. Methods This is a prospective cohort study. The study included eyes from two groups: 86 eyes of healthy volunteers’ eyes and 72 eyes with posterior blepharitis. Participants were examined, and diagnosis of posterior blepharitis was achieved clinically based on signs of posterior blepharitis. Clinical assessment of dryness was performed including slit lamp examination looking for signs of posterior blepharitis, tear breakup time (TBUT), superficial punctate keratopathy (SPK), Schirmer II test (with anesthesia) and meibum score. Non-contact meibography was performed for both upper and lower eyelids using the meibo-grade system which involved distortion of meibomian gland, shortening and dropout. Results Lid margin abnormalities (Telangiectasia, lid margin swelling and hyperemia) were all significantly higher in the posterior blepharitis group. SPK, meibum score, meibography dropout, distortion, shortening, and total meibography were all significantly higher in the posterior blepharitis group as well as meibum score (P value < 0.001). TBUT was significantly shorter in the posterior blepharitis group (P value < 0.001). There was no significant difference between the two groups in Schirmer’s II test. Conclusion Meibography can be a helpful non-invasive tool for the clinical evaluation of the extent of the anatomical damage in patients having meibomian glands loss due to posterior blepharitis. Knowing the extent of damage in meibomian glands may help in selecting the appropriate treatment modality and expect the response to treatment in patients with posterior blepharitis.