- MeSH
- Eye Abnormalities etiology pathology therapy MeSH
- Anophthalmos * etiology pathology therapy MeSH
- Humans MeSH
- Microphthalmos * etiology pathology therapy MeSH
- Infant, Newborn MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
BACKGROUND: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental genes OTX2 or SOX2, the genetic abnormalities underlying the remaining cases of MAC are incompletely understood. This study intended to identify the novel genes and pathways required for early eye development. Additionally, pathways involved in eye formation during embryogenesis are also incompletely understood. This study aims to identify the novel genes and pathways required for early eye development through systematic forward screening of the mammalian genome. RESULTS: Query of the International Mouse Phenotyping Consortium (IMPC) database (data release 17.0, August 01, 2022) identified 74 unique knockout lines (genes) with genetically associated eye defects in mouse embryos. The vast majority of eye abnormalities were small or absent eyes, findings most relevant to MAC spectrum disease in humans. A literature search showed that 27 of the 74 lines had previously published knockout mouse models, of which only 15 had ocular defects identified in the original publications. These 12 previously published gene knockouts with no reported ocular abnormalities and the 47 unpublished knockouts with ocular abnormalities identified by the IMPC represent 59 genes not previously associated with early eye development in mice. Of these 59, we identified 19 genes with a reported human eye phenotype. Overall, mining of the IMPC data yielded 40 previously unimplicated genes linked to mammalian eye development. Bioinformatic analysis showed that several of the IMPC genes colocalized to several protein anabolic and pluripotency pathways in early eye development. Of note, our analysis suggests that the serine-glycine pathway producing glycine, a mitochondrial one-carbon donator to folate one-carbon metabolism (FOCM), is essential for eye formation. CONCLUSIONS: Using genome-wide phenotype screening of single-gene knockout mouse lines, STRING analysis, and bioinformatic methods, this study identified genes heretofore unassociated with MAC phenotypes providing models to research novel molecular and cellular mechanisms involved in eye development. These findings have the potential to hasten the diagnosis and treatment of this congenital blinding disease.
- MeSH
- Eye Abnormalities * genetics MeSH
- Anophthalmos * genetics MeSH
- Embryonic Development genetics MeSH
- Phenotype MeSH
- Coloboma * genetics MeSH
- Humans MeSH
- Microphthalmos * genetics MeSH
- Mice, Knockout MeSH
- Mice MeSH
- Eye MeSH
- Mammals MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
The possible complications of anophthalmic eye sockets can occur due to many different pathomechanisms. A differentiation is made between allergic, infectious, inflammatory or mechanical causes. This article gives an overview on the different etiologies of socket complications with their pathophysiology and treatment options.
- MeSH
- Anophthalmos * MeSH
- Eye Enucleation MeSH
- Humans MeSH
- Aftercare MeSH
- Orbit MeSH
- Orbital Implants * adverse effects MeSH
- Inflammation MeSH
- Check Tag
- Humans MeSH
- Publication type
- English Abstract MeSH
- Journal Article MeSH
- Review MeSH
- MeSH
- Eye Abnormalities * diagnosis etiology classification pathology MeSH
- Anophthalmos diagnosis etiology classification pathology MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Encephalocele diagnosis etiology classification pathology MeSH
- Coloboma diagnosis classification pathology MeSH
- Humans MeSH
- Microphthalmos diagnosis etiology classification pathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Anophthalmos * surgery physiopathology MeSH
- Eye Enucleation MeSH
- Conjunctiva surgery MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Eyelids surgery MeSH
- Ophthalmologic Surgical Procedures * methods MeSH
- Orbit surgery MeSH
- Surgery, Plastic MeSH
- Aged, 80 and over MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Cíl: Autor referuje o plastické operaci prohlubující spojivkový vak u získaného anoftalmu bez orbitálního implantátu. Stav bez implantátu byl podmíněn primárně nebo sekundárně po enukleaci či evisceraci. Principem operační techniky cul-de-sac je fixace spojivky dolního fornixu k periostu orbity. Metoda: Autorem aplikovaná úprava původní operační techniky je z devadesátých let minulého století. Spočívá v použití cévního dlouhodobě vstřebatelného šicího materiálu z polydiaxononu (PDS 6-0) a primárně založeného stehu do periostu orbity. Teprve v druhé fázi je k okraji orbity fixována tarzální i bulbární část spojivky dolního fornixu. Výsledkem je prohloubení spojivkového vaku, čímž se dosahuje kosmeticky i funkčně lepší lokalizace oční protézy v rozsahu oční štěrbiny. Výsledky: Autor dokladuje úspěšnost této operační techniky u šesti pacientů v období 2009 až 2014, které dokládá fotodokumentací u čtyř z nich v dětském a dospělém věku. Změlčení dolního fornixu se projevilo po spontánním vyloučení implantátu ve školním věku po enukleaci u tříletého chlapce pro vrozenou malformaci bulbu. Eliminace implantátu nastala také u dvou mladých mužů po předchozí operaci s vynětím bulbu pro maligní nitrooční tumor v kojeneckém věku. Zde se projevil i vliv růstu na vývoji fyziognomie spojivkově víčkové oblasti. Mezi zařazené dospělé pacienty patřili: 83letá pacientka dvanáct let po enukleaci bulbu bez implantátu pro endoftalmitidu nejasné etiologie, 62letý pacient po eviceraci bulbu v 7 letech pro endoftalmitidu po perforujícím poranění a 55letý pacient pět let po enukleaci bulbu s okolním tukem bez implantátu pro maligní nitrooční tumor s podezřením na jeho extrasklerální propagaci. Vždy se podílela spoluúčast involučního procesu v oblasti vlastního spojivkového vaku. Závěr: Operační technika prohlubující spojivkový vak metodikou cul-de-sac s využitím šicího materiálu z polydiaxanonu (PDS 6-0) lze aplikovat u změlčeného anoftalmického spojivkového vaku v oblasti dolního fornixu. Současně se touto operační technikou řeší i případné ektropium dolního víčka. Prevencí vzniku nefunkčního spojivkového vaku pro nošení protézy je při enukleacích a evisceracích aplikovat orbitální implantát. Klíčová slova: anoftalmus, plastika spojivky, polydiaxanon
Aim: The author refers about the plastic surgery technique of deepening the conjunctival sac in acquired anophthalmos without the orbital implant. The condition without the implant was caused primarily or secondarily after the enucleation or evisceration. The principal of the cul-de-sac technique is the fixation of the lower fornix conjunctiva to the orbital periosteum. Material and methods: The modification of the original surgery technique applied by the author is from the nineties of the last century. It consists of the use of long-term resorbable suturing material for vascular sutures made from polydiaxonone (PDS 6-0) and the suture primarily fixated to the orbital periosteum. Only in the second phase, the tarsal and bulbar part of the conjunctiva of the lower fornix is fixated to the orbital rim. The result is the deepening of the conjunctival sac making possible better positioning of the eye prosthesis in the interpalpebral fissure from the cosmetic and functional point of view. Results: The author presents the successfulness of this surgical technique in six patients operated on during the period from 2009 to 2014, presenting photographs of four of them in the child and adult age. Shallow of the lower fornix was caused by spontaneous elimination of the implant at the school age after the enucleation due to the inborn malformation of the eye globe in three years old boy. Extrusion of the implants occurred also in two young men after previous enucleation due to the malignant intraocular tumors in infant age. In these cases, the influence of the growth to the physiognomy of the conjunctival - palpebral area was evident. Among included adults were: Eighty-three years old female patient, twelve years after the enucleation without the implant due to the endophthalmitis of unknown etiology; 62 years old man after the evisceration of the eyeball at the age of seven years due to the endophthalmitis after the perforating injury; and 55 years old male patient five years after the enucleation of the eye globe with adjacent fat tissue removal without implant due to the malignant intraocular tumor with the suspicion of its extrascleral growth. Always, the co-incidence of the involution process in the conjunctival sac itself took its part. Conclusion: The surgical technique of deepening the conjunctival sac using the cul-de-sac method and using the suturing material made from polydiaxonone (PDS 6-0) may be applied in shallow anophthalmic conjunctival sac in the lower fornix. At the same time, with this method, the possible ectropion of the lower eyelid is treated as well. To prevent the occurrence of the conjunctival sac not suitable for the orbital prosthesis application, it should be used the orbital implant during enucleation or evisceration surgery. Key words: anophthalmos, plastic surgery of the conjunctiva, polydiaxonone
- MeSH
- Anophthalmos * surgery physiopathology MeSH
- Eye Enucleation MeSH
- Conjunctiva surgery MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Eyelids surgery MeSH
- Ophthalmologic Surgical Procedures * methods MeSH
- Orbit surgery MeSH
- Surgery, Plastic MeSH
- Aged, 80 and over MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Autoři prezentují kazuistiku pacientky s anoftalmií, u které byl k rekonstrukci očních víček užit retroaurikulo-temportální lalok (Washio flap). Tento lalok, který je nejčastěji užíván k rekonstrukcím defektu nosu, nebyl podle dostupné literatury tímto způsobem dosud využit.
The authors present a case report of a patient with anophthalmia in whom retroauriculo-temporal flap (Washio flap) was used for reconstruction of eyelids. This flap, which is mostly used for reconstructions of nasal defects, was not used in this way according to available literature.
BACKGROUND: Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized. We studied genotype and phenotype of three newly identified children with 14q22q23 deletions, two girls and one boy with bilateral anophthalmia, and compared them with previously published deletion patients and individuals with intragenic defects in genes residing in the region. RESULTS: The three deletions were de novo and ranged in size between 5.8 and 8.9 Mb. All three children lacked one copy of the OTX2 gene and in one of them the deletion involved also the BMP4 gene. All three patients presented partial conductive hearing loss which tended to improve with age. Analysis of endocrine and growth phenotypes showed undetectable anterior pituitary, growth hormone deficiency and progressive growth retardation in all three patients. Growth hormone therapy led to partial catch-up growth in two of the three patients but just prevented further height loss in the third. CONCLUSIONS: The pituitary hypoplasia, growth hormone deficiency and growth retardation associated with 14q22q23 microdeletions are very remarkable, and the latter appears to have an atypical response to growth hormone therapy in some of the cases.
- MeSH
- Anophthalmos * MeSH
- Chromosome Deletion * MeSH
- Pituitary Gland * abnormalities MeSH
- Infant MeSH
- Humans MeSH
- Chromosomes, Human, Pair 14 * MeSH
- Abnormalities, Multiple * MeSH
- Infant, Newborn MeSH
- Growth Hormone * therapeutic use MeSH
- Otx Transcription Factors MeSH
- Ear * abnormalities MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Anophthalmos diagnosis genetics physiopathology MeSH
- Holoprosencephaly diagnosis etiology physiopathology MeSH
- Hypopituitarism diagnosis genetics physiopathology MeSH
- Humans MeSH
- Pituitary Diseases * diagnosis physiopathology MeSH
- Infant, Newborn MeSH
- Septo-Optic Dysplasia physiopathology MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Case Reports MeSH
