We present a case report detailing the successful phacoemulsification surgery with artificial iris implantation for two individuals with oculocutaneous albinism. These women suffered from cataracts, resulting in reduced visual acuity and heightened photophobia due to iris pigmentary epithelium deficiency. The patients underwent phacoemulsification along with prosthetic artificial iris implantation into the posterior chamber. This intervention resulted in improved visual acuity, reduced photophobia and glare, and an overall enhanced quality of life. Our report highlights two cases of successful phacoemulsification and artificial iris implantation in patients with oculocutaneous albinism and cataracts, leading to improved visual acuity, reduced photophobia, and enhanced quality of life. Notably, there are no prior records in South American literature of cataract surgery combined with artificial iris implantation for oculocutaneous albinism patients up to the time of this publication.

OBJECTIVE: To examine complications, visual outcomes, photic patient-reported symptoms, corneal morphology, IOL tilt, and intraocular pressure after implantation of an intraocular lens (IOL) and iris prosthesis (IP) following iridocyclectomy.
METHODS: Patients with previous iridocyclectomy treated with an IOL and IP at the Copenhagen University Hospital Rigshospitalet between 2007 and 2018 were included in this national retrospective non-comparative case series. The assessment encompassed BCVA, PRO questionnaire, corneal topography, and anterior segment OCT.
RESULTS: 45 patients were included. Eight of 45 patients were previously treated with ruthenium-106 brachytherapy in conjunction with iridocyclectomy. Six of 45 patients developed endothelial dysfunction four of whom had received ruthenium-106 brachytherapy. Five of 45 patients had subluxation of the IOL/IP complex due to incomplete zonula apparatus. BCVA improved for all patients after lens surgery. 26 patients participated in the invited follow-up examination. 19 of 26 (73%) reported none or mild photic symptoms after IP instalment. Five (19%) reported ongoing severe photic symptoms. The corneal astigmatism significantly increased after iridocyclectomy but did not change after lens surgery.
CONCLUSIONS: Implantation of an IOL and IP is a safe procedure, alleviating photic symptoms in most patients. It comes with higher risk of complications due to a more demanding procedure and larger surgical traumas from previous treatments. Ruthenium-106 brachytherapy increases the complication risk. Corneal astigmatism is induced by iridocyclectomy but does not change after lens surgery.

Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-linked hereditary disorder characterized by the triad of follicular hyperkeratosis-photophobia-alopecia. The clinical heterogeneity makes the diagnosis difficult. To investigate the clinicopathologic and trichoscopic features of KFSD and to further clarify the essential requisites for the diagnosis, we conducted a retrospective study of patients with KFSD. The clinical information, histologic features, and trichoscopic findings were evaluated. Eight patients were from seven separate families. Two females were mother and daughter from the same family and the other six patients were male and represented sporadic cases. The average age of onset of alopecia was 21.25 years. Involvement of the scalp hairs leading to progressive scarring alopecia on the midline of the scalp with variable degrees of inflammation was the pathognomonic feature. It typically began after puberty. Vellus hair-associated follicular hyperkeratosis affected all of the patients. However, photophobia was not a constant feature. Histopathologic examination revealed disorders of the hair follicle with an acute-chronic inflammatory response. Follicular changes including fused infundibulum, the protrusion of the outer root sheath into the follicular canal, and a dilatation of the follicles at the isthmus level caused by the occlusion of keratin were observed. The trichoscopic features included perifollicular scaling, tufted hairs, and loss of follicular openings. In conclusion, terminal hair involvement, either scalp hairs, eyebrows, or eyelashes, and the hyperkeratosis of the follicle of vellus hairs is the diagnostic basis of KFSD. We hypothesize that follicular changes in histopathology are the primary event that trigger variable inflammation and further follicular destruction.

Most sources state that pleoptic treatment is ineffective after the age of 14 years. Despite the high level of diagnostic capabilities in modern ophthalmology, unilateral amblyopia is quite often diagnosed in adolescents. This rises the question - should they refuse treatment? To evaluate the impact of treatment on retinal light sensitivity and the state of the patient\'s visual fixation, a 23-year-old female patient with high degree amblyopia was examined using the MP-1 Microperimeter. Three courses of treatment were carried out to recover (centralize) fixation on the MP-1. In the course of pleoptic treatment, the patient was observed to have a gradual increase in the light sensitivity of the retina from 2.0 dB to 18.5 dB and centralization of visual fixation. Therefore, treatment in adult patients with high degree amblyopia is justified, since the method improves visual functions. The result will be less pronounced and persistent than in patients under the age of 14, but it is still possible to alleviate the patient\'s condition, which means that if the patient wishes to undergo treatment, it should be carried out.
Во многих источниках описывается неэффективность проведения плеоптического лечения после 14 лет. Несмотря на высокий уровень диагностических возможностей, имеющихся у современных офтальмологов, часто встречаются подростки с впервые выявленной односторонней амблиопией. Возникает вопрос: отказывать ли им в проведении лечения? Мы обследовали пациентку 23 лет с амблиопией высокой степени на микропериметре МР-1 и провели ей три курса лечения по восстановлению (централизации) фиксации на МР-1. В ходе проведения плеоптического лечения отмечалось постепенное увеличение светочувствительности сетчатки с 2,0 до 18,5дБ и наблюдалась централизация зрительной фиксации. Таким образом, проведение лечения у взрослых пациентов с амблиопией высокой степени оправданно, поскольку рассматриваемый метод способствует повышению зрительных функций. Результат будет менее выраженным и стойким, чем у пациентов в возрасте до 14 лет, но все-таки облегчить состояние пациента можно, а значит, при желании пациента, лечение необходимо проводить.

暂无摘要。

UNASSIGNED: Occult Macular Dystrophy (OMD), a rare autosomal dominant disorder caused by mutations in the retinitis pigmentosa 1-like protein 1 gene (RP1L1), is characterized by loss of central visual acuity in the absence of fundoscopic abnormalities. In patients suspected of having OMD based on unexplained central vision loss and/or photophobia, changes may be detected with spectral-domain optical coherence tomography. Subsequently, the diagnosis can be confirmed with genetic analysis.We report a case of an 18-year-old White male whose suspected diagnosis of OMD was confirmed by molecular testing. We conducted an extensive review of the literature of previously reported patients with OMD to date.
UNASSIGNED: A PubMed search of \"RP1L1 and Occult Macular Dystrophy\" revealed 34 papers. There were 225 individuals with genetically confirmed, symptomatic OMD; an additional 15 had a confirmed mutation but were asymptomatic and discovered incidentally.
UNASSIGNED: Our patient presented with a 10-year history of unexplained loss of central visual acuity and photophobia. Genetic analysis confirmed the presence of a p.R45W substitution on the RP1L1 gene, the most common pathologic mutation in OMD.
UNASSIGNED: Due to the lack of appreciable fundoscopic changes, correct identification of the disease can be difficult. Incomplete penetrance has been associated with the condition, and the age of onset is highly variable. Much of the research discussing OMD has come from Eastern Asia, but whether this is due to a heightened awareness and screening protocols, or increased incidence is unclear. Additional research and increased awareness globally will help with more timely and accurate diagnoses.

BACKGROUND: Mutations in the genes encoding the large-conductance calcium-activated potassium channel, especially KCNMA1 encoding its α-subunit, have been linked to several neurological features, including intellectual disability or autism. Associated with neurodevelopmental phenotypes, sensory function disturbances are considered to be important clinical features contributing to a variety of behavioral impairments. Large-conductance calcium-activated potassium channels are important in regulating neurotransmission in sensory circuits, including visual pathways. Deficits in visual function can contribute substantially to poor quality of life, while therapeutic approaches aimed at addressing such visual deficits represent opportunities to improve neurocognitive and neurobehavioral outcomes.
METHODS: We describe the case of a 25-year-old Caucasian male with autism spectrum disorder and severe intellectual disability presenting large-conductance calcium-activated potassium channel haploinsufficiency due to a de novo balanced translocation (46, XY, t [9; 10] [q23;q22]) disrupting the KCNMA1 gene. The visual processing pathway of the subject was evaluated using both electroretinography and visual contrast sensitivity, indicating that both retinal bipolar cell function and contrast discrimination performance were reduced by approximately 60% compared with normative control values. These findings imply a direct link between KCNMA1 gene disruption and visual dysfunction in humans. In addition, the subject reported photophobia but did not exhibit strabismus, nystagmus, or other visual findings on physical examination.
CONCLUSIONS: This case study of a subject with large-conductance calcium-activated potassium channel haploinsufficiency and photophobia revealed a visual pathway deficit at least at the retinal level, with diminished retinal light capture likely due to bipolar cell dysfunction and an associated loss of contrast sensitivity. The data suggest that large-conductance calcium-activated potassium channels play an important role in the normal functioning of the visual pathway in humans, and that their disruption may play a role in visual and other sensory system symptomatology in large-conductance calcium-activated potassium channelopathies or conditions where disruption of large-conductance calcium-activated potassium channel function is a relevant feature of the pathophysiology, such as fragile X syndrome. This work suggests that the combined use of physiological (electroretinography) and functional (contrast sensitivity) approaches may have utility as a biomarker strategy for identifying and characterizing visual processing deficits in individuals with large-conductance calcium-activated potassium channelopathy. Trial registration ID-RCB number 2019-A01015-52, registered 17/05/2019.

Photophobia is considered the second most common symptom of both concussion and post-concussion syndrome. Soldiers on duty experience photophobia after blast-related concussions or mild traumatic brain injury in 60-75% of instances. In addition, soldiers report other symptoms, such as asthenopia, squinting, dry eyes and headaches, for which they are considered to be at high risk. According to the International Brain Injury Association, some concussed patients report indirect symptoms such as multi-tasking difficulties, dizziness, vertigo, and fatigue. Moreover, some concussed individuals experience photophobia for approximately 6 months or indefinitely. We present the case of a 23-year-old soldier who presented with severe photophobia after a mild traumatic head injury. His photophobia was alleviated after the administration of topical anaesthetic drops in the eyes in the absence of any ocular surface pathology. He was diagnosed with post-concussion syndrome light sensitivity and was managed successfully with rose-coloured special photophobia glasses tinted with FL-41. Photophobia is a common neurological symptom in military personnel that needs more attention as it affects body and mind. We have reported an uncommon pathway of photophobia, which may unveil an unrecognised mechanism that may play a role in post-concussion photophobia.

BACKGROUND: Trigeminal autonomic cephalalgias and complex regional pain syndrome are rare conditions, and their co-occurrence has not been reported previously.Clinical findings: In two patients, ipsilateral trigeminal autonomic cephalalgias developed after the onset of upper limb complex regional pain syndrome. Hyperalgesia to thermal and mechanical stimuli extended beyond the affected limb to encompass the ipsilateral forehead, and was accompanied by ipsilateral hyperacusis and photophobia. In addition, examination of the painful limb and bright light appeared to aggravate symptoms of trigeminal autonomic cephalalgias. Detailed examination of the association between facial and upper limb pain indicated that both sources of pain cycled together. Furthermore, in one case, stellate ganglion blockade inhibited pain for an extended period not only in the affected limb but also the face.
CONCLUSIONS: These findings suggest some overlap in the pathophysiology of complex regional pain syndrome and trigeminal autonomic cephalalgias. Specifically, central sensitization and/or disruption of inhibitory pain modulation on the affected side of the body in complex regional pain syndrome might trigger ipsilateral cranial symptoms and increase vulnerability to trigeminal autonomic cephalalgias.

BACKGROUND: To report Stevens-Johnson syndrome (SJS) in a patient with acute pneumonia secondary to SARS-CoV-2 infection.
METHODS: A 45-years-old woman with a diagnosis of acute pneumonia secondary to SARS-CoV-2 infection who had received azithromycin and naproxen. Three days after starting the medication, she appeared ill and developed ocular discomfort, photophobia, dysuria, and macular rashes on the trunk and the extremities. On ophthalmological examination, a total epithelial defect was seen in both eyes. According to the examination, Stevens-Johnson syndrome was diagnosed and the patient was admitted to receive systemic and ocular support and medical care. The patient\'s condition improved during the 3 weeks and recovered from both COVID-19 and SJS life-threatening complications but ocular complications, including the destruction of the meibomian glands, irregularity of the eyelid margin, and corneal scarring remained for the patient.
CONCLUSIONS: Although, it is not clear whether the cause of Stevens-Johnson syndrome in COVID-19 patients is the virus itself or whether the use of medication, but patients with COVID-19, especially patients receiving medication, should be screened for symptoms of Stevens-Johnson syndrome.