A new gene mutation in a family with idiopathic infantile nystagmus.

Idiopathic infantile nystagmus (IIN) is an inherited disease, which can occur through a number of different inheritance patterns (autosomal dominant, recessive, or X-linked). The most common of these is X-linked inheritance with incomplete penetrance and variable expressivity, and can also be dominant or recessive. To date, only two mutations have been described: the first, affecting the FPR143 gene, which is associated with ocular albinism type I, and located on chromosome Xp22, and the second, affecting the FRMD7 gene located on chromosome X26-q27. To date, a causative gene on locus Xp11.3p11.4 has not yet been identified. The most common cause of IIN is due to mutations in the FRMD7 gene, located on chromosome Xq26. We present a case of a new mutation found in three siblings from a family with FRMD7-related infantile nystagmus, whose parents are consanguineously related in the first degree. A complex mutation has occurred in this family, which, to date, has not been previously reported in the scientific literature. The complex mutation consists of the presence of three consecutive 1 bp deletions in exon 12 (c.1248delT; 1299del C; and 1312delT), causing a secondary deletion (c. 1340-2145 + 214del), and resulting in a truncated protein. We also present a 7-year-old patient from a different family, with periodic alternating nystagmus, having no mutation in the FRMD7 gene, which we assume may be an example of non-FRMD7-related IIN. This patient does not have a family history of nystagmus.

Topical mitomycin in endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction in older children.

PURPOSE: Mitomycin C has been used in ophthalmic surgery to mitigate postoperative scarring. However, the outcomes of endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction with adjunctive mitomycin C in children remain unknown. Our study was aimed to evaluate the efficacy and safety of adjunctive application of mitomycin C after endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction in children. METHODS: This is a retrospective chart review performed in a tertiary eye care hospital involving children with congenital nasolacrimal duct obstruction, who underwent endoscopic-assisted probing from October 2013 to August 2015. We compared children who underwent endoscopic-assisted probing with mitomycin C (mitomycin C group) versus others who underwent endoscopic-assisted probing without mitomycin C (endoscopic-assisted probing group). The mitomycin C group received 0.2 mg/ml within 4 min to the nasolacrimal duct ostium using a cotton tip applicator immediately after probing. Probing was considered successful when patient complaints of tearing were reduced or the results of the dye disappearance test were normal. Demographic data, clinical features, and intraoperative and postoperative variables were correlated to the success rate. RESULTS: The study sample comprised 68 lacrimal vies. The majority of children had bilateral obstruction and no previous history of probing. The mean age of the patients was approximately 4 years. Most obstructions were considered complex. The success rates were high in both groups (p>0.05). There were no adverse events related to the use of mitomycin C (p>0.05). CONCLUSIONS: Although mitomycin C has no adverse effects when applied to the opening of the nasolacrimal duct, its use after lacrimal probing for the treatment of congenital nasolacrimal duct obstruction does not improve the chance of success.

Topical mitomycin in endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction in older children / Mitomicina tópica em sondagem endoscópica assistida para tratar obstrução congênita do ducto nasolacrimal em crianças mais velhas

ABSTRACT Purpose: Mitomycin C has been used in ophthalmic surgery to mitigate postoperative scarring. However, the outcomes of endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction with adjunctive mitomycin C in children remain unknown. Our study was aimed to evaluate the efficacy and safety of adjunctive application of mitomycin C after endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction in children. Methods: This is a retrospective chart review performed in a tertiary eye care hospital involving children with congenital nasolacrimal duct obstruction, who underwent endoscopic-assisted probing from October 2013 to August 2015. We compared children who underwent endoscopic-assisted probing with mitomycin C (mitomycin C group) versus others who underwent endoscopic-assisted probing without mitomycin C (endoscopic-assisted probing group). The mitomycin C group received 0.2 mg/ml within 4 min to the nasolacrimal duct ostium using a cotton tip applicator immediately after probing. Probing was considered successful when patient complaints of tearing were reduced or the results of the dye disappearance test were normal. Demographic data, clinical features, and intraoperative and postoperative variables were correlated to the success rate. Results: The study sample comprised 68 lacrimal vies. The majority of children had bilateral obstruction and no previous history of probing. The mean age of the patients was approximately 4 years. Most obstructions were considered complex. The success rates were high in both groups (p>0.05). There were no adverse events related to the use of mitomycin C (p>0.05). Conclusions: Although mitomycin C has no adverse effects when applied to the opening of the nasolacrimal duct, its use after lacrimal probing for the treatment of congenital nasolacrimal duct obstruction does not improve the chance of success.

RESUMO Objetivo: A mitomicina C tem sido usada em cirurgia oftálmica para reduzir cicatrizes pós-operatórias. Entretanto, os resultados da sondagem endoscópica assistida para o tratamento da obstrução congênita do ducto nasolacrimal com mitomicina C adjuvante em crianças permanecem desconhecidos. Nosso estudo teve como objetivo avaliar a eficácia e a segurança da aplicação da mitomicina C após a sondagem endoscópica assistida para o tratamento da obstrução congênita do ducto nasolacrimal em crianças. Métodos: Trata-se de uma revisão retrospectiva de prontuários, realizads em um hospital terciário de oftalmologia, envolvendo crianças com obstrução congênita do ducto nasolacrimal, submetidas à sondagem endoscópica de Outubro de 2013 a Agosto de 2015. Comparamos crianças submetidas à sondagem endoscópica com mitomicina C (grupo mitomicina C) versus outros que foram submetidos à sondagem endoscópica sem mitomicina C (grupo de sondagem endoscópica). O grupo mitomicina C recebeu 0,2 mg/ml em 4 min para o óstio do ducto nasolacrimal usando um aplicador de ponta de algodão imediatamente após a sondagem. A sondagem foi considerada bem-sucedida quando as queixas de lacrimejamento dos pacientes foram reduzidas ou os resultados do teste de desaparecimento do corante foram normais. Dados demográficos, sinais clínicos, variáveis intra e pós-operatórias foram correlacionados com a taxa de sucesso. Resultados: A amostra do estudo foi composta por 68 vias lacrimais. A maioria das crianças apresentava obstrução bilateral e sem histórico prévio de sondagem. A média de idade dos pacientes era de aproximadamente 4 anos. A maioria das obstruções foi considerada complexa. As taxas de sucesso foram altas nos dois grupos (p>0.05). Não houve efeitos adversos relacionados ao uso da mitomicina C (p>0.05). Conclusões: Apesar a mitomicina C não tenha efeitos adversos quando aplicada à abertura do ducto nasolacrimal, seu uso após sondagem lacrimal no tratamento da obstrução congênita do ducto nasolacrimal não melhora a chance de sucesso.

CHARGE syndrome: A case report of two new CDH7 gene mutations.

CHARGE syndrome is a genetic disorder comprising the following clinical features: coloboma, heart defects, choanal atresia, retardation (of growth and development), as well as genitourinary and ear abnormalities. This syndrome is caused by mutations in the CDH7 gene, located on chromosome 8 (8q12). We present two new gene mutations in two patients with CHARGE syndrome, not previously reported in the scientific literature. Both of these patients clearly demonstrate the difference in the clinical expression of this syndrome, with patient 1 having a greater clinical severity compared to patient 2. We conclude that although in the scientific literature to date there is no clear correlation between a patient's genotype and phenotype expression, we can assume from the cases we present that a correlation does in fact exist. Specifically, missense mutations (as in case of patient 2) are associated with milder clinical expression, whereas mutations which result in truncation of the CDH7 protein (as in the case of patient 1 having a nonsense mutation) may be associated with a more severe clinical expression.

Characteristics and Success Rates of Same Day or Asynchronous Bilateral External Dacryocystorhinostomy.

PURPOSE: To evaluate the characteristics of bilateral nasolacrimal duct obstruction (NLDO) carriers and success rates of same day (simultaneous) or asynchronous (different day) bilateral dacryocystorhinostomy (DCR). METHODS: This retrospective study included patients with bilateral NLDO who underwent bilateral external DCR between January 2010 to August 2015 at the King Khaled Eye Specialist Hospital, Saudi Arabia. Postoperative success rate was considered as subjective perception of no tearing bilaterally or failure if unilateral or bilateral tearing persists after surgery. Data were statistically analyzed with P <0.05 indicating significance. RESULTS: Of 57 patients undergoing bilateral DCR, 32 (56%) had same-day surgeries and 25 underwent asynchronous surgery. The median duration of follow up was 7 months. The success rates were similar for the same day group [61.3%-95% CI 49.4-73.2)] and for the asynchronous group [54.2% (95% CI 40.4-68.0)]. Success rate was not correlated to the age, gender, or use of stents. CONCLUSIONS: The authors strongly recommend bilateral same-day external DCR to treat bilateral NLDO since the success rate of the procedure is similar to the asynchronous surgery, allowing a full treatment in just 1 operative visit.

Tungiasis infestation of dermis fat graft in an anophthalmic socket.

A patient with an anophthalmic socket with a dermis-fat graft (DFG) developed inflammation and a foul odour in the right socket. The DFG was surgically removed and Tungiasis infestation was detected. This is the first case to report Tungiasis infestation in a DFG in an anophthalmic socket.

A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma.

Peroxisomal biogenesis disorders (PBDs) are autosomal recessive diseases caused by mutations in one of the 14 PEX genes described in the scientific literature. All of these syndromes may be associated with different mutations in the PEX genes, the most frequent being PEX1 for patients with Zellweger syndrome (ZS). In this paper, we present the case of a patient with a peculiar clinical history: evisceration of the left eye (LE) at 4 years of age because of a benign ocular teratoid medulloepithelioma and a progressive loss of visual acuity (VA) in the right eye (RE) beginning at 9 years of age, leading to the diagnosis of ZS. In addition, the patient presented a mutation in the PEX14 gene that has not been previously described in the literature. This case broadens the spectrum of clinical expression in ZS patients because of not only the presence of a benign ocular teratoid medulloepithelioma at 4 years of age but also the late clinical expression of ZS (at 9 years of age).

Clinical presentation of multiple cerebral emboli and central retinal artery occlusion (CRAO) as signs of cardiac myxoma.

Cardiac myxomas are benign tumors of endocardial origin that usually occur in the left atrium. Trans-thoracic echocardiography is the diagnostic method of choice, and early surgical removal is the preferred method of treatment. We present a patient whose history of cerebral emboli and central retinal artery occlusion (CRAO) led to a diagnosis of cardiac myxoma. Neuroimaging studies showed multiple infarcts in the region of the left middle and anterior cerebral arteries. Ophthalmic examination showed gross retinal pallor compatible with left central retinal artery occlusion (CRAO). The etiology of stroke was investigated by performing trans-thoracic echocardiography, which showed a mass in the left atrium compatible with cardiac myxoma. Complete removal of the cardiac tumor was performed by open-heart surgery. Fortunately, after a period of rehabilitation, the patient's hemiparesis almost completely resolved, but the loss of vision OS remained unchanged. Many cases of myxoma are accompanied by constitutional symptoms, such as anemia, fever and weight loss, which allow for a diagnosis to made before serious complications such as embolism occur. Unfortunately, in some patients, such as ours, the absence of signs and symptoms allows the myxoma to pass completely unnoticed until the first embolic event occurs.

Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

Intermittent Ocular Microflutter in a Patient with Acute-Onset Oscillopsia.

Saccadic intrusions are small involuntary saccadic movements that disrupt visual fixation. Among saccadic intrusions without intersaccadic intervals, ocular flutter and opsoclonus are prominent. The saccade amplitude can occasionally be very small, which is referred to as ocular microflutter. The authors present a patient with acute-onset oscillopsia following a non-specific viral condition. An ocular microflutter was subsequently detected using video-oculography. After extensive investigation, a diagnosis of isolated idiopathic or post-viral ocular microflutter was made. The evolution of the condition was favourable, and the progressive improvement of oscillopsia occurred during the following months; however, complete resolution was not achieved. Ocular microflutter is a saccadic intrusion that is rarely described in the literature and is likely go clinically unnoticed because of its small amplitude and the rare use of video-oculography in daily practice. In patients in whom this condition is suspected, the use of video-oculography is essential for a correct diagnosis.

A new surgical technique for congenital distichiasis.

PURPOSE: To describe a new technique to treat congenital distichiasis. METHODS: Case series of three distichiatic patients undergoing a novel surgical technique combining splitting of the lid margin with the distichiatic lashes, marginal tarsectomy in the affected area, and tarsoconjunctival graft obtained from the upper region of the tarsus. The graft was sutured at the exposed region of the marginal tarsectomy. RESULTS: Good cosmesis was obtained in all cases and the lids margins healed completely with good surgical outcome and no lashes contacted the cornea postoperatively. CONCLUSIONS: The split lamellae with a composite tarsoconjunctival graft results in satisfactory functional and cosmetic outcomes. The upper tarsal region represents an ideal donor site.

Success Rates of Endoscopic-Assisted Probing Compared to Conventional Probing in Children 48 Months or Older.

BACKGROUND: To evaluate the success rates of endoscopic-assisted probing compared to conventional probing in children 48 months or older. METHODS: This retrospective study included children 48 months and older with CNLDO who underwent endoscopic-assisted probing or conventional probing between January 2011 to August 2015 at a tertiary eye care hospital in central Saudi Arabia. Probing was considered successful when signals of tearing or discharge disappeared and fluorescein dye disappearance test (FDDT) was normal. Demographic data, clinical features, intraoperative and postoperative variables were correlated to the success rate. RESULTS: One hundred and twelve children with CNLDO undergoing endoscopic-assisted (37 patients) or conventional (75 patients) probing were included. The success rates of endoscopic-assisted and conventional probing were 94.6% [95% confidence interval (CI): 89.5-99.7] and 58.7% [95% (CI): 47.6-69.8], respectively. The success rate was higher with endoscopic probing, especially in older children. CONCLUSIONS: Endoscopic-assisted probing can achieve better outcomes to treat CNLDO, even in older children. The significantly higher success rates with endoscopic probing are likely due to the ability to observe and treat associated problems.

Dacryocystectomy: Indications and Results at Tertiary Eye Hospital in Central Saudi Arabia.

PURPOSE: To report indications and success rates of dacryocystectomy (DCT) in a tertiary hospital. METHODS: A retrospective chart review was performed of all patients who underwent DCT at the King Khaled Eye Specialist Hospital, Saudi Arabia, from 2008 to 2015. Data included patient demographics, symptoms before and after surgery, and complications. Univariate analysis using parametric and non-parametric methods was performed. RESULTS: Forty-seven DCT surgeries were performed over the study period. The median age of patients was 58.2 ± 2 years old, 63.8% were female, 60% of surgeries were performed on the left side, and 8% of patients underwent bilateral simultaneous DCT. Chronic dacryocystitis was the surgical indication for DCT for all of the patients and 23.5% of them had dry eye preoperatively. Successful treatment was observed in 80.8% of patients and 8.5% complained of tearing after DCT. CONCLUSION: The main indication for DCT in our hospital was chronic dacryocystitis with good outcomes for elderly patients with dry eyes.

Punctal Plug as a Treatment Option for Dry Eye Associated with Congenital Supernumary Puncta.

This study aims to describe a case of double lower lacrimal punctum-canaliculi in a dry eye patient treated with a punctal plug. A 60-year-old healthy female presented with complaints of tearing, itchy eyes, and foreign body sensation in the right eye for many years. There was no history of trauma or inflammation. Two patent independent supernumerary puncta and canaliculi were present on the right lower eyelid. The Schirmer Test II (with anesthesia) was zero, the tear breakup time was 2 s, and superficial punctate erosions were present in the right eye. A long-term nonabsorbable punctal plug was inserted into one of the lower puncta. At 9-month follow-up, the dry eye symptoms decreased markedly, the Schirmer Test II improved and superficial keratitis resolved.

Validity of autorefractor based screening method for irregular astigmatism compared to the corneal topography- a cross sectional study.

AIM: To present a method of screening for irregular astigmatism with an autorefractor and its determinants compared to corneal topography. METHODS: This cross-sectional validity study was conducted in 2013 at an eye hospital in Spain. A tabletop autorefractor (test 1) was used to measure the refractive status of the anterior surface of the cornea at two corneal meridians of each eye. Then corneal topography (test 2) and Bogan's classification was used to group eyes into those with regular or no astigmatism (GRI) and irregular astigmatism (GRII). Test 1 provided a single absolute value for the greatest cylinder difference (Vr). The receiver operating characteristic (ROC) were plotted for the Vr values measured by test 1 for GRI and GRII eyes. On the basis a Vr value of 1.25 D as cut off, sensitivity, specificity were also calculated. RESULTS: The study sample was comprised of 260 eyes (135 patients). The prevalence of irregular astigmatism was 42% [95% confidence interval (CI): 36, 48]. Based on test 2, there were 151 eyes in GRI and 109 eyes in GRII. The median Vr was 0.75 D (25% quartile, 0.5 D) for GRI and 1.75 D (25% quartile, 1.25 D) for GRII. The area under curve was 0.171 for GRI and 0.83 for GRII. The sensitivity of test I was 78.1% and the specificity was 76.1%. CONCLUSION: A conventional autorefractor can be effective as a first level screening method to detect irregular corneal astigmatism in places where corneal topography facilities are not available.

Congenital distichiasis: Histopathological report of 3 cases.

Distichiasis is a condition clinically presenting as partial or complete accessory row of lashes that emerges from the meibomian glands orifices. It can be an acquired or congenital with an autosomal dominant inheritance. The histopathological features are not well described in the ophthalmic literature, however they include abnormal pilosebaceous units within the posterior lamella of the eyelid and perifollicular chronic inflammatory cell infiltration. In this report, we describe the histopathological findings of three congenital distichiasis cases treated at King Khaled Eye Specialist Hospital (KKESH), Riyadh, Saudi Arabia with discussion on the pathogenesis of such a condition and the differentiating features from ectopic cilia.

Accidental lacrimal gland removal during resection of the levator palpebrae superioris muscle.

Accidental removal of the lacrimal gland is a rare complication of ptosis surgery. We report two children who underwent large unilateral levator palpebrae superioris resections (LPSr). After surgery, both patients developed dry eye. Post-operatively, the parents of both patients noticed no tears in the affected eye when their child cried. Computed tomography proved the absence of the lacrimal gland in the operated eye in both patients. Oculoplastic surgeons should pay close attention to the anatomy of the levator muscle and its proximity to surrounding tissues in order to avoid lesions on important orbital structures, including the lacrimal gland, and to avoid the development of long-term dry eye.

Accidental lacrimal gland removal during resection of the levator palpebrae superioris muscle / Remoção acidental da glândula lacrimal em cirurgia de ressecção do músculo levantador da pálpebra superior

ABSTRACT Accidental removal of the lacrimal gland is a rare complication of ptosis surgery. We report two children who underwent large unilateral levator palpebrae superioris resections (LPSr). After surgery, both patients developed dry eye. Post-operatively, the parents of both patients noticed no tears in the affected eye when their child cried. Computed tomography proved the absence of the lacrimal gland in the operated eye in both patients. Oculoplastic surgeons should pay close attention to the anatomy of the levator muscle and its proximity to surrounding tissues in order to avoid lesions on important orbital structures, including the lacrimal gland, and to avoid the development of long-term dry eye.

RESUMO A remoção acidental da glândula lacrimal é uma complicação rara da cirurgia de ptose. Relatamos duas crianças que foram submetidas à grandes ressecções unilaterais do músculo levantador da pálpebra superior que desenvolveram olho seco após a cirurgia. No pós-operatório, os pais notaram ausência de secreção lacrimal durante o choro no olho operado. Tomografia computadorizada de órbitas comprovou ausência da glândula lacrimal no olho submetido à cirurgia, em ambos os casos. Cirurgiões oculoplásticos devem estar atentos à anatomia do músculo levantador e estruturas relacionadas para evitar lesões em importantes estruturas orbitais como as da glândula lacrimal que podem induzir permanente olho seco.

A survey of management of congenital nasolacrimal duct obstruction by pediatric primary health care providers in Spain.

PURPOSE: To survey the management of congenital nasolacrimal duct obstruction (CNLDO) by pediatric primary health care providers in Spain. METHODS: This was a descriptive study using a web-based questionnaire to evaluate the perceptions of the members of the Pediatric Primary Care Society in Castilla-León, Spain (APAPCYL), regarding management of CNLDO. The questionnaire contained 14 direct questions and was sent by e-mail to all the pediatricians. All the responses were analyzed by the frequency of occurrence and percentages. RESULTS: Ninety physicians responded to the questionnaire. Massage 2 or 3 times a day was the initial treatment advised by 60.47% of pediatricians. Nearly half of the pediatricians recommended continuing massage until symptoms resolved. Fewer than 50% of children required referral to an ophthalmologist. Reasons for an ophthalmic consult included persistence of symptoms among 87.21% of pediatricians and parental/guardian request among 10.5% of pediatricians. According to 45.6% of pediatricians, their knowledge about CNLDO is limited, and 92.2% would like to receive further training on CNLDO. CONCLUSIONS: Massage was the main initial treatment for managing CNLDO among pediatricians. The outcomes of this survey indicated that massage fails in fewer than 50% of patients and an ophthalmic referral is required for these cases.